id subject predicate object category agent_type has_attribute knowledge_level negated object_aspect_qualifier onset_qualifier primary_knowledge_source publications uuid:941c147e-46f6-47de-8d12-108847c8c589 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c6ea034c-7954-4256-82dd-5e5d291da724 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b61c7b64-a10b-44bf-9b04-12a8b890f5a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b09ee2ed-f8fe-4909-801b-843375f4be9d phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8067ab7-69ee-4aa7-a6b0-6c3e728bcf95 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:162cc395-a72d-4030-b1ce-48bf69cd6396 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9fe8c9c6-d4f8-4902-8e65-a6541fb57728 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:917b3702-27e6-4e16-bf9f-f09c9c476770 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0942961-04bf-4ec9-92f7-78fd4bf22b65 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c06cbce-aedd-4e8d-96b5-c0f2bea980c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42ef51f6-f755-42c7-abcb-c82a0eb652cb phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af31db1b-3ec1-4410-a10e-792bf31ecbde phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e5f232c-f3b1-4f36-b068-9264fbce64d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08e2e61c-89b5-4049-b81f-6593bea888bb phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1d032f4-389d-4617-bffb-25b4c9fd3185 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0f613bb-548c-4ec5-9602-6b55984eaeab phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2770e7da-f308-4edb-8fcc-19c803b359b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9040efa6-5b41-4452-af09-ed9c1ee46275 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d45c1e3a-1579-444b-842b-9d40c5c5c04c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e51ffc4-f2d5-47ea-b7a3-908d0e10029b phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30c5e1f5-53f5-43d1-9ea2-be59e817f915 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a3461ff-0030-4449-906e-aca3fcd8e10a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4de5233-0138-4f60-ae26-2f83e2b2f3d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e9eacd8-73ad-4bc1-bad5-f7203549fdcc phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b47a851-623b-4633-abcb-82201f648b37 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3a5df95-10d0-46f3-8d85-41dbd3b5153c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:677c2059-5293-4495-be9f-91862bc1dc12 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f498592-60d0-463a-80f5-bed1ee466a7c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe7bd843-abee-414c-b67d-9790c46d1f80 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddae734e-fc84-46e9-9267-c60e60916603 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:597fd270-6350-461d-b164-cc09091f27e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:559eb4b6-3bd7-4758-88bc-e4068370f3c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72d862b7-fabd-48d4-990d-030acfc4d929 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c02a81f3-ac85-4040-ae3a-675144559511 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2265332a-4a99-4308-a68c-ab3897d14046 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89ed159d-ee8d-46d7-8892-d4f95d7d905c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09518315-0c4a-40c4-9c29-d3895c2a504d phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9450df78-5b45-4387-a9ca-6f4e26a3f1db phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa5a89e7-307b-4f30-a6a2-3f065b3b42cf phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:327aad84-977f-4235-8479-526cb27d3d2a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cb94c71-1616-4003-a2dc-f182596547c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4c2444b-4e9b-4624-a9b2-0f9836e05acf phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9787a605-3ad9-422c-87e4-acba29257396 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28d265b0-88b7-45a2-b446-2fb68256fa87 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4bebb15-2ff3-4aa8-af78-06a6a493fe1c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:784ae15c-d956-4196-9f67-ca2de66754d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d84c3ce5-6ab5-4e05-a1f4-809c98056ed0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5ef607c-fb50-4e12-a19d-874ff56ab9fa phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a620b801-3ec3-4b21-8587-c945db0b2ed6 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ea8aed4-3822-4e32-b5ee-88f07c52a0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0948c08c-21dd-41eb-a5ba-b67cd0d5d687 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8f87553-aa08-49a5-be44-4f9d34ae7ead phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47da42ed-b252-42ff-a836-2435a0f9ef42 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96b37fe8-1210-4a41-8d1d-f668f76af9b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d33c593-fce3-4c94-86de-7abaa7ac9b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18cbf8c2-b045-43b3-b729-f5fa07ef434a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:390c1069-8201-4544-80b1-ca4a438b33ac phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41a13f96-dcc2-4026-9ec8-ae5835f7dafe phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7683136a-d0f4-4fc6-ab13-4daa93aa4d49 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2149c56-276a-4636-a28a-c825c626f4a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba70e558-fc18-4f06-a684-503d883c2a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d8c820b-6078-4066-91c4-13015804f1fc phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f889dbf7-0e1a-4284-bde7-a60a2a1e43f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f8edd3-9b5d-4743-b7f9-02c31a3c47ab phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c00cccf-d024-403c-aa35-22a52dc14cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0667213b-1f95-484b-9f7f-abd9800063e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aab992db-80f0-4567-bba3-d988aa99d798 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:63618d51-d17b-4d8b-96ee-9324579b955a phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7ebf378-54c3-48b4-8148-b49ccd82b144 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:50453116-f215-4770-a0df-df243dac0fb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6ce3b65-58bf-4eee-99e3-34f5829b25fe phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08d53455-44a4-4205-862b-bf4bb45f5bba phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc1ac57c-8eec-42a2-91fc-b0a1535837f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:281398c2-e569-4264-9f36-1df31fa57999 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:56d1cda6-78cd-41d1-b95c-043446c50063 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7e6c5f9-ffce-4092-9366-7d67abf48e51 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c321f7f-9412-4810-a844-70837ff88f16 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b18be7d9-00be-484b-8c67-b09d7c519c4f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1cf199e-7fe9-481d-a903-aafcf1399b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:783d2af2-699b-43a0-95c5-239d380200db phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2af0fa76-594c-465f-adf8-9ae6f44c3628 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a38ffcc-2804-4abf-9ac1-f125bf428e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6bc7e55b-d694-4504-b263-33afe8a02f28 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58f05723-156b-4c4d-bf8f-f11796a7d441 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:20097d29-626f-493f-a2d6-decd84ea1a93 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0efbcd75-755d-42aa-a1b4-510ddf7fd17c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f1627a4-9930-436b-87da-08bdeebf5f91 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:458f930b-8b2f-4e2b-98df-06a976b9bce3 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95331aa4-4b70-4621-99f2-e9c530a52dd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7fa6e005-8409-4a68-8db7-04cf8bc52b90 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1cf916b-4e07-4a4f-b049-23ed1adce564 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e33b1f9f-bd2c-4a17-8ee7-06f7a32612f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ec583c-3f31-4751-bbf6-9f0c90e463fa phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e89ed7a-c573-418a-b967-7e34c7816e10 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45d0de03-866a-452c-b804-463275bd568d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2156cdf-ef5b-4018-ab63-d6016db945b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1574506-425a-419b-b6a0-856c6a946a1c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0da64fa-b8a6-45e8-84fe-e5e1a2cc9a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f88edf07-050a-4215-8c70-6cee494d1edc phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7815ab40-bb6a-4ff2-8793-69978d8820eb phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d21812d-b36e-4ea9-b753-cf1394337a36 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ac3924f-6c14-4182-8dad-c329c6d78a7d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e29adaec-bc98-450f-89bc-36840662318d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3811368f-cac5-466d-9ad8-e2fb0c835fa3 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c560778-a285-4aac-a9a2-436cafebe6ed phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd23d3e7-137d-47c1-82cd-b5978316c7ae phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ed7a21a-dea9-4cd7-aaee-75f43a799cd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ffef80c-33e3-4e38-89c4-3d117c2ad3ec phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a9a0b65-9347-4f98-aa8d-86302b373ae8 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f34e883-75fc-4291-8f91-ab345d82a368 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b855c27-f764-4ec0-b8ce-b690f5a7b85b phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3841dfa-ffc4-427b-a036-4505a62863e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff36cab4-c975-4613-bd03-9a4c34127942 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cae97e0e-a651-444d-8110-9c376769ef6f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:309ab8fb-a24a-4118-9408-bbb61a1de6d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d37bbdd-1c34-4f4b-a9dd-5fcd4bb7d574 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de049f5d-eb44-4415-be22-5a38f8995db2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6fd5102-964c-477b-b401-f2bc24d4aaa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1553acc-702f-48f2-8bcc-98600be7cd5d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4653fdbd-7f7c-4557-afb3-83628f1b0e00 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b150c8c-560a-4e73-ae46-18ebcc795b6f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee291218-e1d0-4e80-851b-c79ec06e0fd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5051fbc9-7dd9-42d3-a7a7-d1c183173753 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d21ab50a-a533-4f56-9db9-9780acd3ca37 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f75d499-c554-44db-9576-53792fbb929c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03a2cc8f-0a72-4b83-b6d6-357c4dfca391 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:555522a1-f7af-4369-acd2-e596c9345545 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01f0f446-2a83-4bd4-baf3-a1d7e62b2971 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca6aaff7-3244-43be-9546-b234d724dde0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4218a11-0c99-4c04-8035-2821b3f8793b phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ce0a5ec7-e4ce-44c6-afea-8bfc747e006a phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39ae8fd2-8e90-49f2-a237-ccad704ac063 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba76487a-304e-4d34-ac5f-d3c1920aaa65 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b23470ca-4364-48a9-aa23-aaa381f04c94 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dbcb9a2-01b6-44e3-a616-fa086afbaa99 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:afd8e89a-3549-4d9b-8cc3-7fdd8c5179c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eeaacf54-3e70-409d-9cb7-3603c67f313d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54d3a2d3-05fc-477d-a9f0-4323df07b6a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65b8e0be-8268-4987-aa33-14a44a060e85 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:120ad91b-50be-4d8f-a291-22b8b77e794f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11390c80-14e5-493e-8566-a41a9bed6de8 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:382b0a0c-7201-4c51-8ca6-f43cc2ac827e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca549a8b-282b-4c16-a532-2f9af59b5a4d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fb376262-96e2-48c8-84dd-538f59a2d3a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:525070d8-d3fc-44dd-8f34-65d42fba8c08 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9584c666-248f-4a45-8c6d-63a77198a31d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:895ed3e0-e82d-4120-8cb4-87d4cea57f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a299e750-ea8b-4501-98b2-318e8f6af316 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:629b4a54-aa54-40e2-a84c-1e2d2afb086f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdd325bf-0427-40e6-8148-b133173c5bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05505493-f707-4f09-8853-5ee9f77446fd phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94f322c8-6a58-45b9-a450-0a3bc18dbbc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94a3d155-a2d3-4243-834d-64dc225750b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39f7a9c9-a4fe-4e06-98ee-f0f6d8ca3687 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad1c748a-61be-4437-8e05-272be34aa790 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b683a86b-af2e-4213-84f1-327395254c0c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cf69831-b2a1-4133-826e-d0f73998be09 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb393363-41b3-49aa-b1eb-4ab2f91aa541 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b2b9621-a4ae-4bff-be22-60a9677d0182 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92f16039-622c-4089-b141-5fdb118335fa phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a2ddd69-015a-4ba1-8825-4b4d1a670b0f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdb9a985-e9be-4450-bd02-5a2217c33901 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:763727c8-db48-43fa-a671-97b6e33ecf9f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7bc148a-604b-46af-92e7-7ef5d27dc638 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b9cba8a-8b1e-4b33-bb53-b44ae4e63315 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:093417c3-8240-42a1-85f7-2eff89869fcd phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf4af30a-0e9c-4351-b34b-23a4fa6fc351 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddec8b26-0be4-4faa-bdf7-780651b04c3b phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad417d86-854b-49e1-ac7a-4d27607b3d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32eb96d6-44b6-4839-8a08-d521663bd1c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821cab0a-1cf2-42fd-9bf6-d65863e912a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da8997f1-abcb-4a9c-8216-34ad99442f6e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0c40200-cccc-48d9-a350-7acf311d48c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f38d3d9-e93a-4f2f-a2b6-fae24fba564f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4cd473e-0c37-4018-bb29-39e9b22d0c59 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea0d7eb5-dc54-4bce-876f-dd1fdb528cb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b30d82e7-c09b-43be-be21-7716395fb10e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85c4ca8e-6821-4f89-9205-6aac2838077c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:064e1135-0b3c-4b95-8e87-79b99a2f835c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94d55d47-732b-4d30-a223-eb8caa497c24 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71c07305-8768-485f-b194-a553fced9c0d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:944c8c77-974b-436e-a406-7a951bc53ad4 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d25ca2e5-e389-471e-a78b-8504f9cff4b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb49d225-f1e3-43fc-8b7b-f6820eb00153 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e68e2d9c-1df0-4d26-a98d-6d0c98962d48 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0537bb26-44d0-44f7-8d70-cb1cc931a772 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fece3976-422f-4199-adea-ebb2a47c6104 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b152bd8-10ee-4e3c-bfa0-a94f7f70e1a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fcbde2c-b83d-4a96-ad3f-46d898e93477 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f43f99-b98f-429a-b0bf-5a602f3a5e2a phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abe541c4-742e-4560-821e-4b3cb04bc588 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ec067f1-dc42-466d-b5bd-e0516f5cf581 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ed2fca2-0fb8-4ba2-bd38-d54d59084015 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f81cbb9-b796-48c2-9b50-69d0ff43c120 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86677bc2-9d37-43b6-997c-06f01bdd2539 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b91c83b6-45ba-4f52-b4be-de8fa1f4e3ef phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad7ca706-498d-4838-8fd0-c3633d1cd3d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f007ead-f68a-4a68-abe6-1ad030258da3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a24e05a0-bb6c-44dc-b186-810b2def606a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6ed759f8-cdfa-471f-b128-b17a691cb8b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:498811ce-87d3-47f9-a5a2-f981bd81001a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ff43da4f-54ac-4a8c-9c20-9112c81ffcac phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc8077c8-28fb-439d-9b67-56bae6539d8a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a955308-dce8-4ab3-8bb0-94559f5fe669 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:643c8837-306f-4b0e-a0cf-257790615193 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de892dcd-52ae-429b-85c0-f0a9917171fb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77c7caa6-1482-425d-af74-18b8ab501b57 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:655a0a8a-d790-4a88-9380-93b8237db25d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0a91f42-9e1e-442f-a51d-cc312fb41c12 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08a4605a-cecf-4f3b-a4cc-cbb07e3b65ca phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:adc5d189-f2a3-4896-a0fc-0eded3266092 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ac4e302-2e44-4b5f-b00f-228c94b4ea14 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31839abe-65e5-4732-a815-11008a8d03d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6498fd27-eb17-4f04-8f4d-f892bf28ff45 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d015659f-cf72-40e6-b31b-84b5ff161847 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c66e763d-00ce-4662-bda5-f86cb8b58477 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2d41b00-01a6-4f7e-bc1e-21a0da190ebd phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa24cf27-8d02-41f3-909e-9469b756cd10 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a97d6d85-84f4-4c20-b3aa-af93b0e7fc07 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:345f5dbf-f956-4315-92ce-d5371f592acf phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c97a5f9d-b96a-4c85-a5d0-f7fa95d805f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ebd126-c9db-47c3-84da-aaaf05907195 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab9b39f1-b393-4b17-8a09-88c605ba9ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f44ace-8068-4480-bc62-0a3efdf84843 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3aae1a3-9fc5-49d2-a139-e8ff274ccf7a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38a2b823-2597-4eef-8077-f53c116e449e phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42236b90-6712-463d-83c1-70ec016462f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f16cf8fb-045b-4fac-984c-1ebd5802d477 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:609e9777-f363-4a30-a7f9-59efc22ea97d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a43653fc-7f1b-4f86-aa68-55b12a663c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea9246d-1376-4f51-b6ca-a3b91853fc1c phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92017ac1-de8c-45f1-b4a3-c4b45dc7f88a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d880b7a0-f210-46ab-9a52-0bbda9bd8dbd phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edb553c7-e5b4-40e1-9e90-1bdd66538182 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc8db222-5246-46c7-b099-e29cba8edec7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77ae23e0-fa7d-43c8-a4a4-0d04b35750fb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b70ff1f7-3e20-442d-b401-9ca11eb7ac42 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:289a4350-3cdb-4d5f-90bf-dca6f4eb2f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4c6c00f-1fc5-413f-97bc-3c4e0f2c577d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:068ec6ca-1897-4e36-8df5-66c4c2abbd02 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e2569e0-c7d5-4aa2-b8d5-26e8bba681e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20318b93-f013-444d-8bb5-15152f508637 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7beef7b-6c85-4090-b393-bb4b33579814 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69ed9e0e-0a35-4c3a-b058-c4aa24b9668d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e0ed11e-d2c6-41cc-889f-4d9b76940b88 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf704e40-e5cd-4170-bb78-f5306ffd6f07 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fd8a64e-d12a-4f7c-b718-a41f8e4182cb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d47628e-1717-4758-a82b-ce5153634a05 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf74cba9-7f7f-4f39-a0eb-37a3fc67983d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cfa8662-0d17-4d32-b37b-ac7765ae8ede phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7caf625-96a9-4469-affd-acfc39b8ded7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ecf3218-21b2-4b03-bc55-6d9c8f28b9bf phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c8c49ab-0394-43b2-b1fd-a4345631dff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce1e13f6-2adb-4536-91af-c81045e3725f phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50a75495-830c-4b51-838c-f44a1fa0ba02 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fba72aa0-0ce5-49c7-87f7-39edb917cafc phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8009fda1-425c-466a-a118-02d403b77158 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9219cbd-f099-42b5-bbc7-7a63a0b47344 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8a5bc69-833c-49f0-89b1-918c7d6c6ba1 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75e976c0-1161-46b3-9db7-186b24cb189f phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ff06e7b7-7968-4364-8137-380d49773058 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:73b94375-5455-48c5-b944-acf2ee218b8c phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6fe699d-0361-4163-b6e8-fe09103fac1e phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eaf0ca09-9f3a-4f58-ae9c-9faa7d4360c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52907f7d-953a-43f5-8abc-d84c50abd7f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3644e35-768b-48c9-ac05-36c3b97f8025 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72dd3e38-a254-40ae-89a2-dca50dc9788e phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:549638af-be8d-434f-8165-a627bef58d28 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5f122103-ad61-4326-a236-c3cf49b80caa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fcfbed0-f2de-444e-8e5f-94c8480718c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1eab9c8a-5500-4cff-b2f8-9a98eed4ebb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e81fefa5-141a-4503-b8a6-c80b67697cc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7a91013-7cdf-4539-8299-34910b46251c phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5d09017e-b86c-4e10-8f09-c8ffbccdc84f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dccb6a75-324d-4fe5-b248-9234612f8761 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5905eb78-4f68-4638-9f77-12e821d6ea70 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7df6579f-9b27-4481-985e-32d73cbe20ca phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1ef8f51-acf7-4bd5-ad34-d1c0f04acf05 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef10ea17-ffe9-4d12-81b9-7e6f0cb5addc phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73860327-5316-441b-a697-403ed2896092 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d209fa7d-fead-4df0-a298-d6cde80aaef5 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6186824e-c11b-46ae-a14b-53ea354d9d4d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f12f0f48-e115-4749-a17c-ff3250c05f8d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7e66012-8528-4faf-b7b6-deb9e94a0bc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97ae3ba3-c595-47c2-a95a-55305eb50f34 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9100fa4-3321-4703-931b-23203fb80b91 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5d37dcc-2fcf-4ad7-aba2-9f2f2fc8c88d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a24afad7-6580-4a46-9a79-976c08a6f008 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0da6dc0f-0306-4278-80fa-d68d3ed93893 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a0ec072-037f-41f9-a658-7e678a974155 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a894754-0075-4cb4-857a-436b54e0a4ed phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10175d76-ae68-4da3-996c-22c73b0c7066 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aaf1d935-cd90-4f17-ab68-6d6cd71a33e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:170ec329-f5a8-49e1-b319-225c80e4befd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc5a1fbe-1d9a-4f18-9c2a-1ae52920254a phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7721764d-f006-4950-87b7-da6332966ad3 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1204cc8c-20d2-42b8-b1c4-961722c73ffa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa36be3e-3bfd-4f38-bab7-89d25a450317 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55502b30-c625-4a15-8f1e-4365dadc4a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ecf3eea-1c7d-43df-9001-6c21c7230063 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0298bb59-5719-4b35-ad41-b5bd72812339 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a05e63a1-94cd-4d80-8e89-d1c1d4bbe968 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c784200-71d7-4b53-b973-c8169ad45aaa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71651b38-b068-4e26-a719-645bd8795af1 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f35678eb-92d4-4840-b0ae-ea651e38c7f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bda2e187-44d2-4b35-bffc-0eb5fa5c2154 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af654797-ec43-4df1-90ab-7d6ef91db956 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e06839bc-7e22-4d70-be1e-a259befaa555 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:820f64b6-496a-4dfb-a4d7-f626dc886b2f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5659ec0b-5c67-48e0-8e85-e6e8d481037d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f9ac3e2-a51b-42fa-8e8e-94708b228290 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72ff8282-3234-4bec-8b07-3bbca2a3ffda phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:855d69bd-19fd-42b8-a205-b2624829cebd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2632036a-4411-487e-9841-7f13df098e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3b6e71-c894-4a8d-a275-48d4de10c991 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14b0d554-0e33-409c-9c46-3c4bea8ad450 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59c5719e-0b3f-4102-9b35-004731033dc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6323245-2cef-4feb-b33b-8735ee0dcdc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed2c9d86-edd1-4b4a-9f51-902310d332cb phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4246627e-7d55-442e-a750-af237d689d7b phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7f2792f-6137-4989-b998-ec4333ad6cb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab482105-ad99-406b-ae4b-5a564681227f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6be6d2a3-5cf1-4843-ba9d-99adf436edfd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fe25161-6fc4-4b37-b526-2bbd0d0967ff phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74ffc58e-4286-4a89-ad14-f77daca0c055 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81bcf537-8796-42c2-ad77-bf6e4dbb049f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:caf0805c-331f-43e4-a221-fcd2aa963501 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a3e703b-dbba-40b4-9870-5aadf3eaa82d phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52a09632-04fe-4f66-85d5-5522b0bf5f05 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b2233bc-6800-4562-baa3-3acffa28a3bb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57f2c25c-347c-47f9-9008-98608ee6a399 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31996157-4583-44c6-9b60-58bfa543604b phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4fafea83-9e5d-44b4-bafb-6035651ab6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3ce6848-da8a-4ee8-821e-aef7236b79cc phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d90b2cd4-68b8-4856-8d20-fecac25a4e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3116957-588a-4918-b425-932f770ee98e phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a84ce9df-7ae5-4b8b-a5e5-34b8eeaf6c2d phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:546280d3-c076-4267-990c-6dd1974f5a86 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:86f018e4-b2bd-4f0d-a2d8-40843f2e9582 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93be0eed-56b2-4ebd-80ec-ce8064f8f86c phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c09691db-4ecc-4cd6-ae99-a6490f1b3602 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de3d5e8c-a49c-4b0b-9c69-0d49fb8928cd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97131ec8-3805-4e56-8773-a83ee2200e2b phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e2a8295f-fc90-4950-b0b5-90a396221c05 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ebfa0ad-4085-4d36-a8a2-8b0c310ed5cd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea0e8505-6f78-4a5f-a8ac-a6c8ca770c04 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67cf74d1-0569-40dc-83a6-e71522c906c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86b0eeaf-1ab6-41ed-9330-4a7a6933348a phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad988f22-32fd-4705-98c0-0c4db4eb0a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24b9af97-3f81-41bf-9891-e51d06b7f2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad4ee785-16ff-4089-9562-4714ae22c5ec phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b9ecc35-aa7b-4dd4-8a1d-6f0e3f47af98 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04bbb074-db81-45d2-a52e-f285732b5f82 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd4c7965-0fff-42cd-8f81-10e86f621052 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f4c47ab-8022-4457-a5a6-fb85595ce091 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5f9ffec-0646-4fc7-90a3-09121ec9f5d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da78fd95-fe21-4308-b725-8e28915b4049 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92bcbe90-f862-496c-9780-f6f07ce84982 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:376c084f-50ca-4bb3-8ad0-a8e7f549b25a phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dca248a2-a34f-4236-94bb-a481fc1cdeda phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6377abc0-3247-4064-8763-d759877b2ceb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4626e9e0-97b4-4a41-ae19-aab3b88496de phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5aaf53f-dcac-41ea-a857-496142882949 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13e80b91-bc69-416b-bb33-bc0aabf87397 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f90b65aa-b07e-4a3a-8d13-d33a06196499 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1be104-64ff-4281-a946-11efc91f98a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b88f3526-909d-4b87-acf3-57bd082f11be phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cbb4cf6-935c-4682-b2ab-8e4c9b01f245 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a76e6f96-24be-4ffe-aeb4-157c519fa7af phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da5bf098-95b3-4cc0-989b-d33795463d8c phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33b98134-37c3-41d5-b5ed-c0f82c0a14a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36d94026-880f-43ab-a9cb-fb1ecf2d7238 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:437e6e6d-25d6-4608-90ac-0965d0e51d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12002648-1bce-417c-891c-f35ad6f2f344 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b14f08a3-53ac-4a34-abbe-d798d1b10c57 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb33b16-dd17-45fc-8d05-67f0e968a890 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99bcbc43-8cbc-4e27-891a-b034f41e5cde phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be07d1a5-2b1d-41ff-a007-37fedb749b59 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36ebebb8-28f2-45c9-ade3-4c880924ca84 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4b905a8-486c-4a1c-9baf-b006027daca6 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d161b254-cb53-45a7-8efc-6dbc2d4825e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4221b199-82b7-499a-9a3d-4d975ec245c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc6665eb-a24a-45a6-8997-3f7f05b943cf phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fa287d4-424a-454c-af78-c8c223e53ea0 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a18ce1e1-ed56-484c-bc69-80bdee27f013 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03104b92-c64c-4e80-b2c9-9355ba4c51c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfdf9046-71a5-47c8-b2d6-68fd132e4504 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f71db9f6-422b-4c9f-b94b-5d8d495bc1f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52d4d77a-e551-4b18-96af-f96b775eddb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd6dc8d7-564b-4cfb-8f57-9949197bc702 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5504888-ef9a-4953-a14d-182f35db8ac9 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d964bf2e-f692-4733-887b-2d9baa3fd211 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7530c59-aaa2-47b9-99b8-f441433a999e phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14e38667-5e8c-4545-8e07-93bf196493e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c80cb6a0-b898-4d6c-9657-7e383e55c0bd phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6a53571e-effa-4141-b9ed-e49626c9bd41 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a7d8996-6f2a-4436-b5b6-16838ecf3da6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0709c32e-700f-43ab-9e01-f550d403ed3a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:383e6e0f-8b05-4b97-8f57-ec97d96209bf phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a95a774f-9d25-4939-9c63-483c5a2fe1d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f1c765c-dbcb-470c-81c9-5a319034723c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1bf641b8-ad40-4daf-9cd4-edff5564ca51 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1828a4db-5f8a-4efa-a34f-a4521f68278b phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03aabc7a-a132-4a0d-af1a-dbe31175c782 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f6f7d601-53ef-47e6-8414-55f48ffc577a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb392c87-68b1-4199-9655-e03e93b710e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9de9289b-955e-4889-a25e-7984345eaeda phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97aeb65c-8da2-41ea-a145-bd1b2902b432 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:007a0179-09b6-48d4-9273-b4a0307d48a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40f3350b-434c-49c0-b855-d6a77f4eb0c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b41e8759-a574-45b5-a5ea-f31aca27f92d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:702314a0-a371-4dd5-974a-fc31c73593af phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0763a2fa-308c-4b4c-bbd3-0307c38ae13d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c566f57-11fe-4541-8ccd-220f72cc9e0a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5430a04-a92b-42a3-a928-9e9141973231 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3c76f0-d60d-4a36-8279-ddf736042919 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27c0e111-d8e5-4b9e-a4f0-edc74e3f0fdc phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da6783d2-e542-404a-a78c-0c4f23ad089d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27176e2a-5b9a-4cd0-bcb1-b0b65d0d6184 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e3518f2-3490-48bc-ad79-f7f5fc7d0807 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f0d89fc-c5b3-44cd-ac15-379bf9d1891e phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09d84740-b801-41b9-a74b-3860552c6200 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:803d07ad-c803-48d7-804f-45f6a589b26b phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d1287cc-c31c-4cd0-906e-6626ddb975ea phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4fa937b-52c4-4de8-8432-388775eb73e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c1f74ff-7c7c-49ee-a337-886c42ba9f07 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f2419a-8162-4926-93a6-aff7dfbc0663 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a339dda2-f7a5-4d3e-b0d1-c96d6f8c9039 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f416c622-d2e8-45bd-b4bd-9ed02a50ef28 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76877b31-7aac-43e2-a6b8-b2f839aa4ad0 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20daf5eb-2cec-43ef-866e-7a988fcd67ad phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:280195cc-ccd3-4850-a08f-26f1bade7e3c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1738624e-22e0-4c49-a60d-dbc11779a522 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fcf006d1-485a-4469-81e1-907208b40acd phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88b28d25-33f3-41cb-ba1a-78d0dbee2ae6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8947f4c2-cfcb-4b32-b779-b56da3aa8d26 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9391325a-ab9c-49d7-9ba9-243504a7826f phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c37d26c7-8327-4715-a900-1d5608497460 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f72d51b-694d-4b51-ace8-22cfb29e9c55 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a294c0b-5680-4b2e-990b-84b00d867e97 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6b55efa-998d-4bfa-8b98-2895115f0200 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:145e7d47-46ad-4fd8-8494-2d7f29b006ee phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:683c3512-bf1e-4645-8059-d86c6abb0cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a0563bd-852d-4fa9-a739-09b99c32dfb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ebf0ddb-f7ae-4ec7-a857-1241373ef796 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:327ae2c3-3b50-40d9-ab5f-bc8073ab0e83 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e1e7051-4a33-4b1b-94ac-b06fe5681964 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e86ec4b-9fe3-41e3-8933-881c8df50c5a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae026bd6-bc4c-4139-9cc1-e1f231ce0573 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5f0c47e-71a9-4a3a-b626-da0e8c38ca55 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b529dc1-340e-4227-9589-bc99cf186721 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7cd234a-182c-48b1-bf51-f9dc0a91762c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42d40d1d-b128-4ac6-892b-3ae0dbe12f44 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08126b8f-a6a5-4e8f-8346-e3bed5170553 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e777aa0-de40-4b3d-995f-d20f5d78fe96 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71dcac1d-b302-4612-9d8e-edb8a653dd87 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c29eed2a-35ac-431e-96cd-3dbc87351687 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c8f031a-62f8-4dfb-9b99-1e7c3887f955 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:df76af20-d252-490e-a992-316e84e09dc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e6db3132-0181-40c0-8243-ef2d2d659a42 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:21c53c03-5076-4f0b-bd60-da61ae91e872 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4103a9e6-be73-451c-abb2-def93a0f81fc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:91c3d88a-9967-468a-bfdd-13b7c37d9984 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3276e41-8b97-4496-9796-e565453f4d10 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3358db76-71cd-4934-88e4-2746fd1bc1c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b32e5af5-44ac-497f-8e8f-f6a8917e33ba phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bbc58292-c72c-49d0-b9fc-9932b6c7d24f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4a8bbaf-1235-41bf-b6d8-fbaa2e1d69a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3a2234b-7566-4765-a49d-ca4f942cb3b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1909db86-f16d-483f-897e-d60089f67a40 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0969b57-346c-43cf-9dc8-de2479f706d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95a73fd8-a6cb-477d-943f-822e35792985 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6af6a77d-c18c-4b47-bb0c-698c1a1cf9cf phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e4c3aac-f158-4c83-9f7c-b658d7c437c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:73566921-3d7c-4c9d-b82b-97514be93f55 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:510f6075-b877-490f-9452-dff9150860c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15def6a7-d3f0-4518-b0f1-50267627d322 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abbf2a83-d030-4777-b90b-0b75dc5693bf phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f274cc6-423c-43d9-bc2b-18a3c7a04d63 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ada8adbc-af1a-420d-828a-fbe6f6b03e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ad5d24e-d8fc-41bb-ae37-2235e9704d95 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dbcc871-3c5d-4533-8a86-469b715edb27 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a99618ff-190a-4e77-97c3-50bf03a54ba9 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a167a57d-d32c-43e8-99f1-994e0686014b phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64c826d6-5b75-4025-87e8-20d0c1be4543 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9e729b3-c6cf-45e7-b72b-a82ddb920d58 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18457c08-ca98-4552-a485-0b66fb3cca1d phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bdef0cc-ba87-42e6-80a4-e620ac1d800e phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d67f9756-6821-44f5-8b52-0d7c4108da45 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09679fa7-2db5-457b-9957-31bd177ffc67 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bf4565e-9926-4761-9fed-8d2148500c49 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8295d0d-37de-469d-a3d3-b21e08db4c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:452d3c24-1c37-4713-851c-48fdb76a5b24 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f67499c-c723-40eb-9fd6-d610156b6a0a phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7b0024b-65f6-44c1-af24-0023e1d68e2f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a8ba7b7-61bf-493e-bd24-0e771d25faf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:326d3c2b-cfef-4dce-afde-d7a6dc9e17d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a98a32cf-6e37-4e37-94e7-e88adbf4f58f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6d6103d-ce85-472e-8f6b-4ad0f4fe8518 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70ee19b7-f285-47ca-b177-2c87e65ee226 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea93296e-1fe5-4c29-9e0b-ef825f497eef phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:440238fb-35f4-4caa-8b06-0bd775ac86f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23edefe2-c40e-4608-9490-51c23d19d463 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:578fa413-e7e3-4f8d-886c-1671f13d5aaa phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc4316fb-bc2b-4936-8b29-6acbca3c300c phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5eef4821-33ef-44c5-bc4c-b1f28bec6340 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31b898f1-ebd4-47ac-b7d7-726e868d9918 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fcdcf54-ca98-459d-8339-22f6c0b8d443 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29a1f9ae-8ba8-4a48-9e67-46a4a39ff611 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d5557b1-7f10-4c2a-aa8e-b94d5cfed437 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4979778-a620-44e3-b46c-d1c824e2cacc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86f6551c-993f-41ab-a108-a7bf7b95acfc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8886d7ed-f24f-4a70-b6b7-9f97eee03c06 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea545a88-ac78-4471-a18e-8713c07c2cfe phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:665494f0-8267-44df-8aba-d6d515f953aa phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:157a99c5-0b47-48b2-8335-17471851fff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48b537f0-1b9e-420e-97ec-efc1b0881622 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8c71867-91ad-4f25-b24f-b2f45bb94c45 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7dc6d4ed-6077-475e-88ea-0525ddbaec17 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e66fa79-4fef-4856-a789-bbbaf34190c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83b18f39-75e6-46ca-bc1a-5b5b243e9e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4248cf91-18b7-4e43-a97d-e579dd976bbb phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aba6b245-fece-4e0b-ac40-4ef137e474dd phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ecc56d0f-1fd7-49e3-b332-52fc5f1a94c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02745306-e3c2-4fac-93dd-8718dbc96709 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5670a3e-c5bb-41d2-9f72-d1d46585b239 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1ca8dfd-9f2e-4674-8ab2-b912f402b482 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f0359b8c-150a-4317-a0a1-4d0755ffd190 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:669c8b1f-9c71-4dd3-b052-eaadd022d6e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ff63c4d-f2f3-4f5c-b715-3ea840d4fba4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:35cf3072-ba5f-49da-8a85-55febb8ad061 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5e9405d-0ce8-4e19-bd9d-e410bbede241 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74a740cf-0e8e-4671-845c-67dc72914f9b phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81fc8fbc-1ea6-4064-9424-f225e51b49db phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76fb402d-51a2-44bf-ac16-3dae8c0193ea phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77d891b7-b346-4fee-8845-d0cf93780669 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:69d754e0-5a2e-4d98-8e14-bc95f1cb895f phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f19587b0-277b-49c9-90c5-ea9bda1448e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f2601c3-92df-4c6c-9017-e1766730583c phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6aeb5ee8-6ed1-4a2b-90e2-e7c6dba0b482 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b88c31a-89ff-4bfb-8b5e-9b59b65e59d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1daca5ca-8378-4937-a34a-f9dbe0f19b38 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97caa9e6-57c3-41aa-9243-4f2394bc7cc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c5cc524-94af-4525-89a8-20e76838ebbc phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:67862141-e355-4318-a793-44eecd66ab33 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c76f198d-8fd9-4a4a-a48b-6ea88ffc7119 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4d64e56-5410-4c87-a1ce-1065c0d30b63 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6e60e3a-f1a3-44ae-a4b0-da6d1f1f15c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f9d865c-2b9e-4acd-8a7f-56b2a32bd70f phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faa88c9d-e31e-4297-8bba-49a5073414dd phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05794b14-257e-469d-b137-fbe4fceb17d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0c34ee6-40ea-4b88-bc65-85e76805571e phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6e8b4fe-1f52-4f3d-b5a8-82d98cce0781 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e870cde-f9fe-41e3-8478-f6240316d9ec phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bd5d059-a3a5-4ad3-9543-e4e6cfa4fd76 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a7b521d-834e-4e18-96cc-7e9a8bafb9cc phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5e1506f-3158-42bf-8d78-5a0095bcbe74 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2f8c92-b30f-4b76-8aab-60d5f093d8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb75c08-b345-462d-83ee-e83ff28c8bed phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f671682-7f2c-40b3-b337-3b8e0394a435 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d97b41d-68de-4c1a-82dc-035e9a763aba phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e23205b-746a-4b62-b0be-839e61997e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54d9f1dc-b282-4b35-9565-435f0792c3ee phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c7e1443-5738-48e7-8ace-024fbb530b99 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4c05740-89cf-4020-800d-475c18cf7f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9e1bc3c-1f94-423a-89fc-5b69e29d5d01 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3f50069-b80f-44e2-b7e0-1f64b1c0d682 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19f68978-144e-40d8-a712-21720f6e3da7 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e8c8532-3a26-44aa-b60b-0ef7452cf40d phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adb2faca-04a0-4dd4-8ee2-3c1c0bab2f63 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73f3950f-0f75-4a36-ac41-f80010aa9b7c phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f2bee77-050f-4008-8bc8-28fe299a16d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5221e4f8-b445-49d6-ae98-435805e7a8c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18e29a78-efe0-4fb0-9cc6-c62a9ea62d98 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caedb23e-0026-45db-bc79-433870cc9f50 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e3ccf71-507f-42d9-94e9-60ae544517ed phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99b36c35-ad50-4ae6-b27b-d56397072750 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:979ec6fe-8812-4cc4-be96-e1f82f5632f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:009b49e4-32af-4b9c-b451-2c405395b5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4b444a2-a90b-496e-8e7a-825f36004d13 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b41c6ede-809c-4ef2-947d-52a28805e4be phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36d5748f-c6bd-46bf-83a2-9712c550eaef phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17985f22-2744-4769-940e-f89f1901c06e phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c311d73-eb86-42bb-8fd0-bd493fb1f516 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0beefde4-4d9b-4f15-8fb2-6862674e8cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3d44e18-cea4-44ec-bf17-17cdbcfc096a phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:1c2f9c15-7dbb-4f74-8e36-d3ca5db5a024 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43908cf6-2c23-45f9-bfb7-2becd8e56079 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1e20ad8-de4e-4625-98b4-9a8e01335e6f phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7704a62-07ff-420d-bfd1-fd7df8ce4a59 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee2e2cab-67c4-4e71-a54e-76b6854f871a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54a387df-ffb7-4640-b95a-8b5c09fd3f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d257271-49e5-4eeb-9a98-5e3f8263373d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a223fd8c-2e0f-4775-982c-38c4e41f5f84 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab75456a-4fda-4254-b8fd-bfccf09851b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c98eae24-f507-47b3-9955-39a723cc792d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98321498-20db-49bd-8631-2ca9b686838d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd37119a-0071-4d92-a9d1-3ae7bb52c97b phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8afc0ec7-fb40-4bd8-a62a-7c1dc3a6f4d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c65f25e7-427b-461c-b64b-aa05e7b7a330 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d3f29e6-b044-42a8-b7fc-9dc73def1323 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acea9c0e-e504-4dc4-90ec-d9947eea8d6e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0473735-f04b-4350-95d9-ef4a6d1cc1a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:655100e5-3585-4742-84bd-4443ca0f0ccd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09ff0136-1ff3-43ee-8518-359b47a7098a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83218274-2a50-4bd4-9ce4-47313f3f5e1f phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:49580da8-0c86-4cb6-b45d-5e9de3ee71dd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177e741f-1c69-427c-bd06-92fc6db9f21e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00f1bf9e-7ab6-4351-9626-65fa1fbcca42 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95b65398-5813-49f3-90b8-ea66720c273a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c61645e-e08e-4c7b-bd35-895c2ccacc0e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ba5300d-d951-4366-ae40-687042b78190 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:546b0b62-274f-44de-9b63-363f3244dd0a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d720ed82-bdc8-41ce-a696-06b635e014b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a94434c0-bad8-41af-99bf-61d75b7deee3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5b21ecb-ea9b-460e-ab71-f432651436e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3f28210-1619-49ee-b66c-bde4af8623f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ee307f3-fecc-49ee-a51b-20c362316797 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:212686da-cdf7-4368-a0d2-3dd6426842ed phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a90104aa-4752-43b1-bff4-b04917e05765 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57ef6b18-b312-4b64-a738-f75e6f9cdacb phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c382a26f-c3f4-44cc-8ffc-ad261726b1a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abccc77b-d9a9-4c15-80d7-484ce1ba3e5b phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:723e73e8-c2d1-4078-833b-261296d69128 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43d43ca6-c564-4d2e-9f4b-91d053b7e698 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af3c15f6-2587-4367-87c0-07abf9f6f363 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cbe9cc4-9306-4c8e-b198-39c39ddab0f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d87188c-d4e3-4f2f-afb3-b9d4d6b241e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e90d64a9-5db3-4ef3-a7ce-ee72f7558be0 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a0b5f13-9e3a-4f13-a0db-f415b9394493 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b30f6c0-87eb-4440-ad37-debc960c4365 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a237b071-754f-48d8-a401-e858db65efd2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14efd87e-2997-4d5b-86d6-53a6f98d37b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f89ab70d-8e73-4c19-995d-90d80258da58 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e09095cf-8465-4c53-b915-9152fb2506c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cda566d-bbc8-412d-a19c-9e9be3704bad phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:941cf31e-4328-4ee1-83a3-bf2c17888cb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a4a0243-7d6a-4cf4-a66e-544cfe3ef7d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13af9eae-1c05-468f-9b69-ec97a3fc9f3a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8faa8a1b-1663-4689-85f4-00f38b095ca5 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7e2d12-40c0-4577-a606-9a68dd9a50f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6f66756-c4ef-47f6-b753-827937d096f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d453357-5f06-49e2-99cd-7d1432e587ea phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ee396f6-5f8a-47c9-91e9-7a4a29e59ef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c21b0af-0a73-4e5a-8e29-644b8dac29b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7e860cbe-a0af-426b-9d66-120023c8bb85 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94c0102e-115b-48ea-999e-f239497016af phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7207d10c-9cc8-4605-94ea-1d28b53879f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70aef099-e0ed-4ab6-992e-fec060a132bd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd99978a-7824-4a49-97b7-4866df8842ef phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dde49c73-0fd0-4076-87ea-1567cc83aab2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d235c2eb-33a2-4b7e-8187-0920cce9bd85 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9af44624-8a2f-4fdf-9370-eaad94228628 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:524f9975-14f7-4dab-9adb-2555349e5fbd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00ea6423-c95f-46f3-97da-9494d0d42bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:665fe647-b16f-47c7-8cd0-5ef75abd1898 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4866af95-97ed-408f-b9f3-c10136344b33 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3defbb9-3dbe-464d-8b9d-7e2c4882654e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61021104-6305-4288-a6d5-8ab02ba66ef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:922b15cf-febd-44af-87d6-789fc2f1403d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a754fde-d8bc-4b8e-a9ce-0b63d3bdb249 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dd26c42-03fb-45e6-9d9a-3c734f02de71 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:200aad92-a5bb-401d-b49d-9b52e838b8ab phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4268bd11-b528-463c-85e0-8213415d8d3b phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1880ded9-d241-4cd1-896c-2011df2fea58 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:67c58567-05fc-4271-b43a-8fecc5927112 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7146dae8-df70-4a7d-a144-8ef7744e4544 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36fc3596-8544-4bbf-ac49-fce9d23bef68 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c646dac-18b6-4f9d-965f-e3f3757c7cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b3af28f-d08c-47d1-8009-f453e61d43c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1513f4af-827a-4d0d-ad34-34e9e625b1fa phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8982681f-6821-4599-97d6-647c54955cff phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bf8d395b-b05f-48d2-aecc-95e2690fb90f phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aeb60a12-1f8f-4cbb-bdfb-46d0cb556ec1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fdae3ed-ecf0-4e3d-8c5d-08a289708137 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a2fa2b1a-86d8-4ea6-85cb-8bbe7b4cab77 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe9e60b5-884c-40f0-b23d-7a3b50f9aeb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53620da4-f6c5-4284-bf40-4300bad9d8bd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4ddd8b90-d102-4867-be86-eb0acef4689e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fedb1d9-2a6b-4a5b-9174-fa8a222a2832 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ca70deb-812c-45e2-9eb4-e6e23199bef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78652c6e-0eb9-4026-aa0f-62343a98451a phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0390d38-386a-4330-9a75-90f41136b021 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66563654-06dc-4821-8148-433efbd7f8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0add2164-2c70-4c73-b808-ff6ead9b72fa phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:374a9b7e-11cd-450a-9a82-c99ad4ffa104 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38cec4b7-1817-4a8e-a19b-e726591327be phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a2ccf3-1fd9-44c4-bd04-5abffb81c50d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177050bb-5d72-4417-be8b-ab67a4bcccde phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db88f3d-32f3-4a79-beae-62477a511301 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd98bab4-42cd-4738-9245-05b2cdb98a9e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d43bd403-8188-4235-a09e-1399dad45de5 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87fbdc65-5acb-457a-9992-d279b4d12baf phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3afb4dfc-33c7-48ad-ae4d-bcc6467a1508 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2462964e-16f4-4ec7-91c6-1f8880be77d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3531e2e-2b88-42aa-9d23-cd4d58b4be25 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8653e7c8-5907-483e-a083-c248fe42fe50 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02cab604-8b8a-42af-a4b7-a7a76ea4b34c phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:479104cc-8d83-47ab-86a9-89b1d62664bd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fe8c55c-6376-4050-ade6-1b2ae33dc42b phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41cd5055-84ff-4c6a-b093-9d7ffb4ffb48 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87adbf24-0931-4bc9-a437-cc47f43d251e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d027d14a-e7ef-44e1-be7d-9d98088ffa74 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78959d36-fb95-4f64-9e11-c1dcc19b92fc phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4719f675-d0de-49d0-846b-c0903275d7b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e06d9d3a-d30e-428b-af51-2d7b58964f3c phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e600edc3-5852-448c-bb0e-19da7fa7d5c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38d0369d-7c2f-43bf-af27-73091c6f3b5d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e94075a-bb9f-4e5f-a52f-772b0f658d96 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29eb8753-180f-4a82-9ed9-8fb7a8e43894 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f46194f7-d7a4-4d48-9727-0b8d8c4109b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25cc08a7-25cc-4b23-9696-b1f0233b537d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5acc53cd-f78a-4631-920a-ea65b52ddc93 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ad28b17-e73c-4ee9-a7f4-89457f82f826 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecbac42f-08d6-4fd3-bc54-d304b9d3924d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a81f61b6-956f-4cd2-8363-ba40fb17c2f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f6fd5195-ac98-4bba-a3db-c508ae670fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b6c10df-62cf-4620-92f5-2347df24c5b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29c7e475-5974-4a04-b8d0-3c12b2da1761 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca25c8e-bc57-49c0-889f-7549dc1ef52a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f0ee747-df0c-4acc-bdf7-85ef3dbca1c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e4ad681-b639-44f5-935c-0ddd8823c026 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fca9ae7d-63ca-4547-85af-f8ac51c09796 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55d065e3-6351-4bfb-862b-2d2423bb444f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8bb7979-f86c-40cd-9f77-38c41c1b9833 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5bc736c7-0bf5-4660-aad4-a0cc308e6699 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ebbb9f57-a50d-4d70-9e93-9ac8265868ac phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ea3f757c-f9d5-41ab-b13d-a78280e3fcad phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7250a957-1554-4dee-84ba-706d0e6453cf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1eb0053-5093-44ee-bfcb-39b6ef083d63 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3494cda-5ee5-412b-8a98-9b137f04afc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d69df969-55c2-4a32-a63f-5a7ebc1957ae phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:306ee996-065e-4316-a25e-2362019d783d phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93d9a245-799f-486f-98e7-ac6616e91beb phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e80c8b7-c4e1-4ed1-a490-4d5de810fad6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4df4e743-c295-4764-96c2-7bcb7e440bed phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40c07491-5a00-4a3e-b64f-0ad6c1f17136 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfa5081d-d83f-494f-90cb-b8947178fdba phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:542c0631-b403-4152-9b53-156ed448cb98 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:134c2f32-986f-46ba-a52c-29b7604e980f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50216b38-2277-4d8f-934e-b58ed0bf2fa2 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1507fff1-1660-40e8-b5cb-d6d1637c81ae phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d73ba0a1-62bc-466d-ab89-8d67fa9d2ccf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1b1a241-f089-406f-903a-eb5c875d26b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b638703c-d116-4098-83d0-7cefeb1bf900 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11e7a512-ef1f-464b-b40a-0a0d5c55273f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a920bce-b92a-488d-b532-222d7bb36893 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f60ff5a-2214-4e2d-b1b2-928636eb7ac3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d3d68e6-5fc4-4422-b5ca-ee710ac21ad6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b245bf9f-d8a7-4c65-aa24-d3a086b30728 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9a1c3c3-72d3-4aad-b0b4-f2b7322909c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf7dfaf8-2a3a-41a0-bc9a-016eadea195a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b9a92ff-58bd-461b-8837-b166cdc87d65 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:098928df-2790-441b-a736-8884ee083217 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2e194cb-c253-4f92-85b0-fbbd17adb762 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1a47cd2-4eaa-4c43-806a-e3f405d68e1c phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9149fe45-702f-48bd-95b0-c357bb87ec43 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28259a4f-ff43-4fae-adab-b3174f41b2a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:614fb6f4-7fe3-4b90-960d-c70e2b524917 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f80abaf9-0f57-4448-8487-344b4c2ce268 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94d196ec-7537-4802-8eab-cd23729bd59a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a21aa8c-2dd6-45eb-b964-e15f173f430a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbcfaccf-7468-4688-bb91-bdb35a5ce7bd phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a96a1a23-37a0-4930-98ac-5ed416dff0cc phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fe9630d-9e97-4524-ab26-0059715d99d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4aaae0d5-6efb-4ad6-b7c1-ad57ab07c6bf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71aacc4c-ee05-4d0f-bbac-cc732731bf96 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:767267c2-6f49-4dff-a6e0-d6060cfb6794 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:027696a5-7a49-4405-9d2d-bbe82abda29f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d503232-8126-44ca-8a3c-7d3e0b637f39 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab4c4629-17d9-4fe0-9eed-6e8abfd63a0c phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efaee0b0-f581-495b-a30d-a6d1563677b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66a9630d-ca4f-4919-821c-16de33c5b3ce phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4016e7ba-c0d3-45d5-aeea-3c24331687c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0322403d-e5c7-417c-9e3c-a845b1b38a3a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11cdd9bc-b4b7-4588-a953-d2fa25d574f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b87271f7-5760-4299-8f75-fa1afa828812 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c87fd9b-4131-4306-a959-c9029e2078a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1e9177e-0063-4764-be09-81314ac836ca phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd8e7c96-d43f-4260-8a5b-a85a3ae8ad21 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42db1f10-c149-4b60-ae65-2bd6248ff009 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:60c0606a-f33f-42f1-9aa0-cfb9cc3a5730 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a91a1460-446b-4f39-9f02-883b685bcb04 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29fd19d7-c28b-4728-a6d9-513acfe596be phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5abedee2-27c1-4e56-a50a-15c4e4a7a1d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5d39eaf-5eb6-4213-97f5-54e6aa60ddc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c457f538-627c-48f4-aa3b-5689f57a46e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f364563-31c7-489d-96a6-9e9a63d133d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e072f424-924a-4a91-a774-dcdcbb6e3652 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58e0badf-9305-4bfc-9097-e5dd7139194e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9b329e33-b037-47d6-822c-f6c8072c496e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e91487e3-c296-45ff-9925-fc7e9c013d8e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8f5dec37-8952-4ee3-8d14-c78f25f6df71 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ae93cb9f-a1fa-4565-bb61-6f944311d768 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b17e30d3-f02e-4378-bc8c-dad67547c387 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1197afe4-51b1-410e-9913-3b9e1a7f4e31 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:995b57c7-6c58-41bb-b374-6dc319715aa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cc676d9-8d15-4ebd-9e5b-0d504066c458 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bdc1b50-1fb3-4240-ab69-f9f60d9a32ea phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb7b3fd8-cfdd-47e1-814a-22b258b4402a phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d92108c1-bb6a-4720-a099-e96ab95b2055 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:291a5683-85a9-4cee-b3d8-52bb997fa5b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:501519da-21dd-4f45-9408-12213ccb4365 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fb4b432-7271-439b-8670-d0ace668e9ff phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5371cd1-bb5c-4c97-8753-114de29c749d phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cce83314-c849-4073-92eb-7fb4fc451ea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac218e4f-7779-493e-ae84-a38ea2c9eab7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:736906dc-301e-4f58-9b17-a56411ed8338 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9073619-137c-47ca-a31f-811578934586 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04230ae7-753b-4c73-a0ca-5579c79acbd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2b871d6-b3d5-413a-a9c0-bfe1791fdfe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48c98202-d002-482d-8a2b-e39468a0b4df phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b81c7399-9d1d-4b8f-902a-a3de5b403921 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9497c2e2-4d1f-4907-a31f-cfab9132460f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a2f43ea-cae2-4524-a79c-f32614cf6eb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce804742-ff88-4c97-8f66-e50d3709c47b phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b78b185-3728-4da1-906a-cb1f56ad61d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc82cfa8-18d3-414d-946b-60a8c725f8a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be399a52-4794-4a39-b8b3-50dd43a5bc55 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df85b1ce-4bed-4481-832a-66aef30dfe25 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5a26aab-9cc7-4035-a61e-b64eb50d6d96 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:817ccf4c-7633-4581-a45d-1e9382163ad2 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4506f8fa-d3d8-4a00-8fc5-367c76b3a24f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd13ad4b-0b65-421d-b8df-f1e0889878cb phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24160fa4-83da-420e-b889-cbf995eaf5b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6aec8271-6396-4b1c-8bba-7427696caff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee47f0e1-1058-436d-9c63-bd8c9d25c530 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe9a00a5-7041-438d-bb8b-7bb054cb58f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85e062e5-f1e0-4d10-b7b3-d021dd9bba26 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bade170-5f0b-400c-a844-9277bfbd91b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2592db1-250b-44ec-9533-a4b21db9c92d phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67357492-e4f0-4958-ab85-151227d2d315 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c709aaa-446c-4dcd-a54b-f8829746f782 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3c6f293-5420-43ee-9fea-2147828a8bfe phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06d65cf8-7171-47c4-ad30-04ed2eb57df5 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f94238e-52a5-4b2e-b7c9-d5ae3d7bd1d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:591fb5fe-cc07-45fb-a13f-8f5982d2b46b phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d69a339-3853-4963-9b6d-b8760967b1dd phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c84bfdd-c5f8-4bc4-9faf-3970d0209b46 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be08d87d-b367-4291-b278-4a1f5a5d322a phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ecdeb82-b37f-41c4-892c-666108c77eaf phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:443fe8f0-0f12-4b55-812b-19abc147aa30 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04bd57a6-4130-4e55-97ad-78ef5bd3f503 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f4c56dc-61c6-4b78-b85d-9cacb09a4c5f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1dee310-5e5e-42cf-9244-e4877dd6f25e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:275f2ca0-5020-4e78-b699-f92f6328bb21 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:034cffa1-5f43-4cf1-a805-465ced7cff83 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:16d33469-9bf8-441b-ba0a-95e7ae7284f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1e6342ab-37b1-4761-8c13-af215e6d866e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9544c992-32a2-4b4a-9249-e86a20bec1ec phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e69967b-bc05-4f42-8608-574460e9e83d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:497cf8ad-b845-408f-9982-0e3557369651 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cdef990e-f900-4a19-9e9a-af445cb9d854 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cbcf57e-8c8d-4512-9dd7-ca43bd4dee5a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b528eaf-640e-4fce-b38e-5d61284d87d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4141c39-bfe0-4e18-be10-31d32ee60d8c phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96b32926-338d-40c0-8ec2-72fc8da4fbe8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:60213b61-0d52-4d76-954e-a588dcdf35fa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c20caf46-5891-4354-804b-d6e51c7a32a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4037c043-27bd-4c54-b3a1-fd3fa0193bfa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b266fcb7-a527-4287-8fbc-e9435aeb88b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf555f05-f0ce-4a16-bd23-98ff40395270 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6368d698-7ca7-4d2c-9f10-e3eaa47a4933 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b2ed16c-02ea-487a-ac9e-3e18094620dd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3323379-b972-48b9-9cf9-324321fa7282 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb4d427e-3c88-4e08-8829-d7a735216f12 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16422acd-a325-44a6-a5fd-c72da8a5b859 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90dac4dc-154d-4056-acba-75553540b828 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:beeb6e06-1a22-49bd-8738-c704e4bb53b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1375e711-6b3e-4566-a0f4-31fa101ebfcd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1320c20-ea21-4d9a-9f6b-31a3e3b24ef0 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b20296bb-f6d0-44f8-a099-fd785ef1f195 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:243729f1-a29a-46e2-8b54-051464e43e9b phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abc01f73-1c99-4cf0-84e4-f47267755982 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0c3b5b0-de8a-48ba-a735-e92471c18256 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d860432-277c-47c1-90dd-562f64bf816f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90296ff0-6503-4658-bfae-821263123a9a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51797f2a-b710-452a-9501-aa7334406ee8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e208ddf5-9bba-4e72-93cc-e9a5273157ea phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32f85267-d4ee-4d09-85b8-74acbf01a90e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a39311d4-cd51-4920-827c-8be05d9289e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6c497fa-a10a-4c3c-93c3-f77fd8460312 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a9adfad-1b0a-420f-9545-cbfed2959d9a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b0f947c-9c08-47f2-a4d0-84dfcd0a7e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e357eae8-7bc9-4cc3-a2f5-4d741a19eaff phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bf2b55a-61ab-4144-951e-5476e5132194 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a0cf758-caba-4298-bd7f-e927fd693059 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e991b12-8c64-40e2-b980-30793d7e94e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0f98952-d7a3-49e7-9468-fd565199be5f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cf23c45-fdb8-424b-be7c-0f236ea99fce phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f413db86-b00a-4f0a-8873-f3649ccbc12d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd59b886-5713-434c-a93d-4f610b63e0dd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:add39266-c09c-4a2b-ad8b-bc1e9d8945a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bef8f2a-5b2d-4d66-a3a6-f9a3b25eaa0f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93f6480c-7a16-487b-9dc5-376b6db24f7e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2919e9b-effb-48ae-827b-345c859aa81e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61f89b4d-1886-4452-b3f3-46a3362dfab3 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e32a5e66-a139-4e8b-bc90-10456031e5aa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1b0b3dc-8836-4a14-982f-8453146ff709 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5b61e33-a1a5-4859-8573-0ef4144ffff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6120db57-ce61-40bf-8861-f0bf481d0f78 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50905ed1-549d-4c11-b794-2587a47e3e16 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c29d78a-3e80-42de-8d84-ab4671bf206f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21a2a020-ae62-45cd-a44c-ca5c5ecb88af phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7c62956-9974-4298-a882-21911cc6e6b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24f87408-228b-4a48-be51-a63db472f103 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:792b9065-76c5-4421-8c24-75afc1101f92 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:596aab48-d0be-4192-8a6c-6f6524786cc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bed45092-f277-4b66-b9a7-90a019446d4d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45b52fef-8912-405d-b39e-cd19a983f61e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e078ae70-710e-4d05-bb64-74a688f3e214 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f18ef5b0-9f3e-427d-878a-ea07f51dea8e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e56436c7-b4b6-4729-8c35-608045035559 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39fe961c-8786-478a-a472-5966a4f7b914 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:102b719f-e547-4db9-b5ef-81d3ad3f075e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bc5716b7-012c-44c9-a71c-ece23a13139f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af1a1e10-fb67-41f8-8611-0410120c18a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ffb7e6-9eb1-4645-ad37-fc17df7f7f50 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:541ff523-219f-4fc7-8bee-fd391ecc2865 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ce5822cf-d5e2-4507-bb33-ef21e73eff86 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d0bde48-c364-4f6d-9ada-b74ddaefc64c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82465032-3830-4ff6-a79e-9018eef083fd phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ccff604c-12e4-45c4-970b-25e674e5b508 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:363e7932-31b2-46fb-8a8e-0e16557a388d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c130d049-b892-464d-9527-38054d4385a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8d75c0e6-5a98-4fda-967f-56e8f903c165 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf2a0bc9-03b0-4270-bc8b-f30d1ed73353 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2761460-feeb-4769-8f12-60dd70717f32 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4daeb6ba-eaa6-4e67-b8c8-dbaf3e325021 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ac50109-dc20-44c6-94bb-2adad23bc20f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6288ddce-0882-402b-afc5-0e0b210ef21d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bdebf8c-dab1-4393-a114-7285370e597c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f69699f-cef1-4f06-8227-170b58a06ee6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da4d561b-3648-48fa-8569-e1030d27b6d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3731df-e443-4d14-8c86-e2ca35c8f2a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67e83574-ec4c-42a6-be36-2c5a7bb3222d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c136f30-da5e-424d-949e-c0e568364ab5 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5832de1f-12aa-4b70-afa4-6e338773d6a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0e480b8-065d-4a63-9712-d396582989a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8689bf5-1b53-4867-8946-c48b40c5dbc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4124d035-27de-4d05-b604-3240e99ded8f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a50a881d-6895-44e7-a0d9-bff7f2f1f941 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba26c356-48de-4b3c-80ea-0dbfdc837865 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d53600da-fcb5-40c1-a6ba-1149075a5519 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5740a40a-16d7-4a11-9705-e4a4e8c5ca16 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75967cf1-5a37-4c8a-b4fa-328a60b16f14 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e5239fa-5586-4956-beec-5d1ade26a534 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c8e0a1-e8d5-4bef-a141-fd847958e24d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fbcc4d0-0469-454d-91b4-f135b8b663bb phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa5eb3d1-40a8-4c41-a32e-078a5fb18a45 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d76d9acb-96e6-48a2-a048-4b795eac0145 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a60f9d7-9199-44c8-be08-07a73ca733d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d2194a6-9933-418a-9893-8bc8a69bb55e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9ef7f8f-8bbc-4fd0-be9d-9e5c05bc9063 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:381327c3-393f-4305-8ec3-7b89fb5bff09 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6559b607-4420-4534-be93-01eeb06d0701 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef7d0b70-f46b-437c-b51d-39dbab9b9258 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13bbe7a4-7163-4945-87cd-d952c4360796 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cfd1408-e226-4e26-afc6-7257c8cb79bb phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46d95390-a0f4-4779-a508-7312f43b6378 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ebd3e6-345e-4cfc-be7b-11b7b8410861 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00e4f5d3-004c-4b65-9e91-445ede0adfd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8dd32175-3eec-4919-a110-0dcd0c8cd358 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e935eda6-c7e7-4cf3-a937-d42a1daa8727 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b42b89d-582b-4b7c-b9a7-4518014da05a phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaa0c07f-478b-4294-adab-d71474663600 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61247afa-b9c5-4115-9ccb-80bf180f0f8e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a81b830b-997b-4ac8-bc9d-cd0317f3f0b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50cea25f-80f9-4e92-bb28-7531abb187f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eea81fbe-5b6d-4238-bdea-64493e7e2971 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3fa3536-f0ba-4b83-85a6-03bcb56b380c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:140a85fb-ca2f-481a-a495-d288b4b52146 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23af7117-fee2-4eaa-881b-58d9cb4a6db6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3c61dc9-1cad-4e64-8632-91a50df3c813 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6d68cc-d673-4a4c-974a-d5724cb60c9f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:034bcae7-8840-40e4-b41e-a49fb1b46303 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d7b2d5a0-6b01-43f5-bc9f-d633d35e98ba phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e6099bf-1c36-4c8d-af27-3fd66253114b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:887098fc-f466-45a3-b38c-31a18930278b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b25be9ee-19c7-45ae-b872-780c108bbaac phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b03de35e-c723-4a97-a8c7-9dc384ce17ea phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:481a4e45-86bf-41cb-bd81-198436c798b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bba8d25a-c641-44cf-8e52-f656249f7614 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e129c069-47ce-4db4-b52e-2c57574b27d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1ef23f7-feb6-4ec2-b20f-4dc483f32b39 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:708a909a-d49f-44bf-b4fe-e22549ace510 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68118979-d6b1-4ef2-b285-ddac543e16d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:44be5705-c41e-4333-ad59-fac47266ed55 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:679ac2fa-5118-49b2-9088-7461608e1e65 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4b49970f-63f7-425b-9028-f6e8f056404e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12e75e91-d079-4021-b642-67d980a6ff03 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf9bb01f-cd03-41c2-8113-9c8949412b1e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:71215e47-e5a1-4e67-89df-ae3785b4cf5f phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e669a7de-f3a3-4019-afb1-92671acc650a phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad2ccf61-00e1-40e6-9dd4-53b4a8126d66 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:839dc38f-1028-4c04-af74-9bc901a0c50d phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6af900c-ed2f-46b9-9b99-1847320098fc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8429c912-934e-4360-9b86-ff4b0a540a17 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c86d6efe-09b1-414a-a2f2-6bcc2a03855d phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67f4fa36-0f72-4994-85e4-30a46b76f2d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a538b716-4c53-47c6-9298-aecf5e4115b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b389e630-d0ba-4dbd-930a-d574a0abd5bc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4496248-fe3b-4f6d-a236-2d8b378ec300 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18d83fa3-77a8-4af4-8bcb-2624f31b86bc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80460eb6-cf0f-4f27-a1be-0a06fdae453a phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47714cf9-4d80-4d4c-bad0-b2610db1ca6c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c7e2165-da7b-4d9b-818b-3ca8e8ebadf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52ba7eee-a045-4f49-8a79-2cc17ec0312e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2c902d9-6d8b-4da6-add6-71c5e114b3a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45f07190-0ea0-4a02-8f42-04de7b6394b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334c77d5-1739-4b1f-8290-88c2ad5cfbfe phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37e87427-9ce1-4295-8fe6-8736b0132a27 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:717afee3-a30b-4f29-9cc6-3c97e4fce9c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b17f983a-b357-4cc0-a87a-ec2b81f3e2ab phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9556f091-ec17-47f5-8c40-4c956d10c625 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b120b0ff-385d-4149-80e0-115fbcb05efd phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8338a162-06ae-4580-bf8e-fb1088863138 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fa67780-1543-42b9-bd17-227a4ae1c131 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:947bdb87-dd24-47a6-963b-6583f8d0e93c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d27f251d-6c1a-41ab-9c9d-f1b73e61c466 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:921f895d-2894-4b71-a1ce-af1c8ecb08df phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08666777-df03-40e8-bce9-daa5836de7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4ffbaa6-f80f-4754-8c76-1f67539836f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db95dc61-0caa-4e07-9b09-fdce197a6285 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25a9daaf-8760-4f64-bc5d-8a060be95087 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0760ec8-ef21-4a42-9a3d-ac03a552f164 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3f6da4b-fd47-4ac3-8fe6-85a9c776a28c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1f61fbc-c9b2-4866-ab28-74ea95cabc87 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdcd9e39-7121-4945-ab17-5543c9a5966f phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9757dab-ccd0-41f0-aa8a-c02393913b1e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e2c8613a-2763-4ac2-b1cd-1d6127a110f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ccc4cea-8cce-4e6c-845b-fa485b8c96f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd02f14a-a299-4c74-89d4-dbf3b83f9d20 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b16cfa34-20fa-4212-af3b-ce642eaeac68 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ebb382c-bca4-46dd-b4d1-7fda1eaa4356 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f95e894-22d4-456a-9b28-397a10b09e35 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92ee2a4b-3b7c-4c13-b161-14dbe28510c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15cdb8d0-6841-49ea-a21f-45ab6cfd5a97 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d1656ea-32d6-412e-8a7e-cbdb34dc4cee phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92356d9d-2abe-4194-a79d-d9486750055b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a02d1d74-980d-4db2-ba16-678127c95577 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ed707ba-c3cc-4eea-a2ac-b773f88642e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fbc8cd4-d390-45bf-bd87-ba8a2cef271e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb9e788f-e6e1-404d-acf0-05238483f5ed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad86d4f8-8fef-433d-8c0d-fab6b529277e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:79b1d5cb-5d61-4e33-9571-01b0706c8c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5da21875-d041-47e2-83fe-a1bccd851ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4cc0e72-6b17-4dd1-b17b-3a3806f29e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b014439-5784-42d9-a418-111f4a910c12 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8fd8cdcd-a6f3-4a77-9d5e-e2193ecc896b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55b795ae-2e4d-4b46-b925-99a9b31effc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:316404a3-fef8-49e2-bc6f-521ba2e17cbb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7b45946-07bd-4469-9225-bd2ccefab244 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e311f9ee-ed6a-4a66-a3a9-dba2c33ccb5f phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bc25028-7e08-47a4-8278-23eb253e98aa phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73bb8632-8ed0-44fe-a7a1-704b7c2bcbed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54f1c946-94e3-4126-9b5c-cd7cb5cf95d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c07e324-bbf1-4d96-9682-9294ec6813ca phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a7582bf-9c43-4706-ae28-6c0537a570a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88c12d94-1f77-4aae-b590-034fb59f377e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002b3aad-b214-409e-9f8a-9f307928e94c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1f46e16-b8c4-419c-9f4c-d827f1e2e64e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d35fbe61-bbb5-41fa-a0b5-e47c49165d3b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ba31f6e-2ae3-4b7a-a29a-87cfae0f156b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ea04a4e-ff60-405a-8915-67090dd1e7f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:904d7000-ee68-4ddd-84f2-a0caa066d0c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0865cd7a-5e28-467d-a6fb-b907fefca8e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfdef4b5-9a72-41cd-b196-994286e4b0b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00ae3334-8a4d-4b7a-a96d-717563f02798 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fffe9f1d-9d5e-4c96-96a4-e171225f9acb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2987a428-3128-407a-9281-66f548db68c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe79b4a3-eb9b-42ab-9075-712c349eef0d phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:174bfd88-6275-4b00-8459-0d664c131054 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8e6af15-ff32-4370-aad5-5641dc419d08 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e95e8795-9017-4e32-86bd-c5e220a1d7b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575047f5-3260-4065-a6fa-9136a4b62469 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf794f75-cfe6-4a94-9f21-7923d2e6855e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2125cead-a73c-4ff8-b150-8c284b3f2af6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f92efef-738c-47d1-95c9-72d83789ac0a phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca7d3f80-e1df-4c92-ac02-97f3ded27fc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c46f2dd-5951-4308-8975-f00140695585 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b57b74b-7452-42fa-aa3d-0ec64cb957ad phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7e39eb5-76db-4843-95ad-14d7e6f24c97 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7286f028-3603-4dc2-aad0-5644c2f59ac6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cdc2079-5e31-4186-857f-9a479d23ee58 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee328721-f0b3-433c-816d-3446e0b1b38e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7e6d588-1139-47b0-8b7b-9ca78771b09a phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73073fcb-db4b-4247-886e-3d1cf97510d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01e525b-cc09-4d55-b8bc-760af5832553 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edd2b110-5253-48ab-b9c4-3efe3c698050 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46f14c15-e8ec-45c6-ab3f-c264b31fa8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:888e6344-e07b-4a51-9617-1a63fe407bc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:067badab-92fe-46d0-ac9a-0496f33ca87c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a35b9bc2-d0a8-4550-9414-24c52d6974dd phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9d05943-906d-4be3-af0a-9b7f4f932cd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4da494fb-f77b-4cd9-8eab-145cf1624bcf phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821adb5a-fcc6-45c3-851d-bb4cd98f16c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03f93339-3bd4-4109-bb8f-19839c720edb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06d1447d-3369-4e17-a69f-c1fa75a9b87e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63089104-a6a8-4e54-930a-8a7c86cc4478 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2dbc9fe-2a8a-4b52-b4b2-b95583b495ed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3de821bd-8e9c-43c3-a1e7-8f4c9bb68a22 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43f85a58-56f2-4e49-8cb6-08774ec5889c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f16f544c-0d17-42e7-b34f-2cf3fe756086 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0adb9413-ab59-434d-85e7-27c5bbcc383a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ede58dc-8504-42d3-94a5-af27173daab4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acc916d1-cd8e-46cd-b2b3-8f551b0a9217 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c68831b6-7918-4d55-b9fa-6dfc3153a819 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:286d1f8a-d4f3-4db5-952d-a1233ec3903e phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f400e5e0-056c-454d-b887-399651099561 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:464c9f82-f3a0-4458-b1f6-61c0631bf27a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dfd6ca6-4516-4ef2-8c12-82dce75a0529 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:236a483b-2ee8-4bfa-b25c-15121ecc9afe phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64925dd7-5ef9-4536-839d-7abfdf9c3fc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8660e63-f25e-4e56-9205-59bcd09f4c90 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:201e0695-2e5d-4309-a4f7-2277e945857d phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d28c90b6-77c2-4197-9c14-9234d9e7a8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0bcfc496-974b-4d1d-8623-f767dfeeeded phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3686798e-0ae8-4897-97ed-d34f9f87b28a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddd3eb89-0d65-4acc-976d-cb6d48b487f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7e75c6f-059f-48a4-bf31-1b0ce4b554df phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26fbe907-6c81-496e-ab0c-f04d37f6d017 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c0947ab-f17d-40e9-8cc8-5c7065db0890 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31e486a1-5070-4db0-adb8-69fda734364f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffd4d38d-c692-4c58-9fff-5ad3d9d1384f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26bc0d86-b783-496f-a22e-9a9b51faba5a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b955a7ad-65c0-4fbd-8c57-d4142a23108c phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42939ec5-a439-429a-b53a-29d7ac1b3e47 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:715634b7-29e4-4b3c-bd4d-50e22019de03 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1387bb26-7834-4bd3-b0c0-fac49b6d9661 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0e9455c-5509-4abd-ae2b-fd994067f920 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:323def2e-fe33-4dd9-a673-6c393ddc3207 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98b8e504-ca72-481d-a38b-7da73d81c6d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bc9ed9a-ef8f-4639-8bc4-3c2d579047d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4443030c-dd87-4542-a1fc-fc3c9dc4cf95 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cd606ab-0439-47c2-8f18-8c67a83b62a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6445119-5120-4de1-8759-27f3aa73be5b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd9790ce-df50-442d-90e3-ac667c6b6a10 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3c6953-8f8a-414a-9f6c-8c7e8096fcb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e904eaba-ab5c-4854-8a20-8ff830e04488 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22d7263c-7d7d-41b9-8d76-cafeaf3a82bc phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a3cf2b5-1e24-4fff-b73c-853899e23b90 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4573d6d4-bc35-4a67-b1e0-315e4c8553f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c0d87d3-2c05-46b7-8f22-ca68b9f5ffb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89cca53b-3e86-4287-935c-b1c901218e4a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb7f3d83-3ca1-4546-84d6-91f46525d6eb phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a80eeccf-cea2-4fbf-930e-0bc0ea501d97 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82338303-3fd0-4538-a802-6cf4b656888b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:205e220a-c076-4bd6-a944-70275448feba phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa034e16-5507-4271-a1f7-78b643ae5cab phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5ddf467-9b87-4849-948c-406ed3d4399d phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef88dde1-23f5-4a68-ba78-144bd00e3b7f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd5c7621-47de-496e-8b08-610a5a772c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5dcf0502-0f72-465a-8a38-f8e915306ce0 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f6e66d4-363f-4940-b5bc-9e448a6ccec4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f70c24f-fb6a-4fdf-a009-eb5591cf4176 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fd360db-50e8-4bd6-b8ef-98fae602276b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dcb61ab-88a7-42b1-a08a-ce46284fc540 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:617e8c90-07fb-451c-bee2-29e55a0bf30c phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c57ba42f-511c-42f9-bd5b-bcf27ec05035 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8eb39b5-ba7a-4bcf-8bf6-2b83d1d7f910 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:696f779c-e3cb-4202-8205-2a61cf4d7642 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8fb4e81-481e-4bbb-a6c4-fa6097cf5ccc phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:971cfb3d-981b-46c4-90f6-042044aedbd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0de3a08-3182-4897-a2bf-16ceb01db285 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e57ab0d-19af-4a39-b5cb-4a699b0a0992 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3b9a3a6-4c6d-432e-8b05-5aac2177e98f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeddf7a3-6bbb-4ca0-83fa-f48b9e1b7216 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063e2411-35eb-451f-8f6a-6dd39e2157f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:19ad6245-ba8b-490e-911c-64b148f801f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81976d5d-c312-4994-8179-c4f13977aa31 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e0b7d6ff-03a1-4f85-9290-e8bc355e34ad phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ecdbb4-d537-439e-8947-133af8c4d989 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4be382d5-f80e-414a-ad4b-7f2d8f8ee8b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07d9107f-b3ed-41df-81ac-891798243e87 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b311cbf-fab0-4c55-b039-f36b07181ff5 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a226a733-15c5-4d62-a66a-01032488b174 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8af11751-c17a-4763-8c77-ece2b6aae426 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a5888324-8e97-4fc7-9a0c-118cd3f0810a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28105bd1-e149-4dc6-a3cd-db2591dfd01f phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0125754-1cdf-4a3c-a441-8a9960f58a42 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f6b76e18-b30f-4d44-8bb6-262031c06852 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bc5dff8e-ece9-40c8-a0bd-a8e820cc9919 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eaa32c7b-b996-4a26-9e51-e8b050e122d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d0ec02a-2182-4c1c-a788-88ca17677a01 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45da332a-0a70-4e84-84eb-e59ac2a9fbcf phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3ca7d20-6227-48fb-a389-334ca281d9d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f6bfe3f-6789-4a3b-bc35-1941f4dd80c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:590b7780-9349-4e1e-830b-c137b7463611 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9aac1d2e-737f-48f0-982f-144305ad422b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88f13b26-947d-4e1b-8c84-848521cab420 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5183732e-68e4-498d-bd8b-21dce06e396d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dda67f6c-b779-43dc-81c3-200865172f34 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:722d59ee-63a0-41e8-bd51-03cdaad95b02 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58c64c1d-6fd7-404f-b1d9-8240cf6a6239 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88252fa0-1e9a-4a29-a05f-aeed0e1c1f46 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3caf0e92-5667-4be6-9e8b-4d4e9bf102c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4418d99a-1af8-4385-abdb-7c2b9ea397bd phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1b2437a-02b1-4ee4-b97a-04e164331845 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e4a72b0-1ad7-463b-a1da-96b8bd55e42d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ec7eb3f-958c-45a3-ac3d-838b870a0a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b349376-faa3-4545-ab66-dee48c9bb9db phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575339b5-d63e-45d6-a4e7-766b842b8f75 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8273f24c-817c-4dc5-8468-6959f4388d83 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73367072-8a98-49fa-9ec6-a7e09448de95 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e63892e6-1a18-42ba-8f38-e0336682713e phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92b1c1cf-e18a-4c6c-84a1-c976f2b062e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fc021b2-2483-4846-b8bd-79311b508cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2c2a7df-de68-4da6-a3df-a10f6d84738a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9a74b70-b5b5-46f5-ab26-7eec5e244b8a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1b6444e-a6f1-4a8d-8ed4-1c3ca79a23a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1edc401f-b004-4a90-91b2-358475c9f9da phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:603a01cc-c3ac-4966-807c-9eeab0047ead phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bac933f-678e-4a5f-ab89-12981d7befcb phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:233f0f71-596a-4fe7-a4f8-cad6aafc85d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:337bb1a3-c41a-4361-acfd-a4c7cace074e phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f00909e9-40a3-49b6-95c7-0e9c161a81fa phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ce7b794-cc80-4a15-a125-544519528a0b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11344f45-a1f5-466c-9b1c-97eeea8a97e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bd810ce-4577-4cbb-845f-70fdf26287a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40bec23d-3c29-4703-8393-42c598a309ac phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92f86b46-227b-4c9c-95f4-4e4b16f63e04 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bfe5334-2071-45e4-bcc5-c5b42e7fa882 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7abe6a9-0d72-45cd-a346-860ff6a81d55 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58ce2d84-5f06-4fc8-ae99-b6efcf18e021 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e44b97e7-5ab8-46cf-a54a-e42fa990aa87 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2279fe51-2221-4d2f-b86a-375a439e7c7b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ecda599-059b-4e91-8903-90415bdd1f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b951bf22-8eeb-45d4-bd0d-ecccc37bc4f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcb4d775-7ba5-469a-a701-ed0dd337aed2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eca6ca7d-3caa-4f3d-a68d-b79528158739 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575ea3ff-9640-4dc6-a2c1-5bd4b891d72d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ec85595-b1ba-4c06-8a67-6b516c3b1466 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39b37685-0d63-4fde-8f3e-83b8951d6477 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a374f49-988b-4391-b58e-02a6ea86edb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f1d9af8a-9209-4e5b-9556-1656d5581d6f phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1d060c7-445e-483f-a62a-33b2401edcd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:afe36cb1-fa9f-415c-bc7a-da2bd13c15ab phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3508159-1a30-468a-9fbc-1c43b88c5552 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40a474ba-3811-400a-8882-206789a75ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:846b3add-61aa-48f0-8519-1125196ea39c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0c0ef65-9119-47e0-b0ae-211941daffd9 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4b2637b-a258-4c72-9ac3-ba191fb898b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7df0a18e-b55a-4c2a-9e87-fa959a4140d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1b1b2899-2aec-4fe4-87f8-d7f491fde492 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7dece438-bb0c-45d1-abb0-f02d8983122c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:88e08620-6fdc-49c7-8349-211336aa3e8d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fe7493f-796d-4465-9b50-cfc13cc6743a phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96498445-a3c2-4b32-8f8d-2ff492c9654b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:90259371-80a7-4c82-a432-031ca06c20f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab30d190-9a01-4a6d-b928-675642db2b7b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:563736ff-84bc-4d35-ba81-cf316d6234bb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08430103-371f-47ad-b1d3-f6a0afc7e3c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dce5b03a-9727-4e7e-b30e-dfc31d4ebb6b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab38953e-6655-42b1-977c-bca9399b1fcb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb1a959b-ff6e-4130-9035-3d0a9cfcfef3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:238906b5-a9b0-4422-8ad5-5f911f41adc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a20c94-5591-4a7d-9868-2a1dd0c6abdb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93964b7b-b54d-479d-92c3-e83d512de110 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe0e6ed5-d6de-4982-a1ce-1468d83bdb50 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c4ba1a1-2111-46df-8e1c-9fcd876a420e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2365fd47-c990-4048-8cfa-94e121696f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bea6a452-99fa-4a67-bad0-8e7dff2c2224 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5410c0b6-77e1-4b52-9674-664aa93d861b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:534637a7-6823-4140-bb67-42af3c830ba3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb2900a-b560-4adb-a10e-ad430e5be23d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:741cd95c-cd97-4713-8dd1-b0af0accfe5d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce13cfa4-ecbb-42ca-9f14-bfd0244d9d52 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ba962ae-6c1c-4222-aad6-3ba75ae4d90e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fac7f941-9edf-416d-9448-d7792e0ab858 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fbdedfd-830c-4b8e-8a97-b8b5c4d6d655 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33a979cb-9bd1-4a33-84cd-2ca937f3af08 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e561c82c-bcb7-496e-be99-f447374fb59e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84751d20-b35c-4ccd-8eb8-54c731a24be6 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83ee7f5a-3bc6-4e74-a5e5-7210dcbf0e7b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74876937-9bf5-4d81-a88a-a761eaa73ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e56e999-7896-4009-a063-ef22eb5fe421 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1f35da7-b902-4f75-9e4c-96374b864068 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fdd76fef-9385-4252-96be-7f3e30cc7b98 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a079825e-8a76-4194-a0fc-be5d53124868 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50916bf4-02f2-4756-9a2c-8a84321b709c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb0c9a56-2a11-422d-832a-20ce090f40d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6be7ae28-cb96-4035-b9e3-2ff8229553b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:149bda0b-326d-4c2f-8067-7dbb3d3542b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb3d2474-87ac-4249-b316-8d118077843d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa05098-7c61-4e6f-a599-2705ac3996d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaefc3df-e38e-4e77-9a06-0df07499c0e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:352bdc48-d44e-4940-a8d5-3c09f4f61fc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd51138d-cfaa-4ece-95cb-0d0e35a66fe5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a647c40-3b9a-4924-ac9c-4a19fba7582b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cffeb4d9-9c45-42a3-a1b8-c8ff0265d86c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0a3b8c0-709e-461e-b1e2-b606b305e3ec phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7db27c4b-1055-44f4-8b4c-59db8c3434e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d616cc1-1e07-480a-bb87-eea28dfe2d24 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ffefe74-79e9-41d7-a856-33993c039232 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c07ca72-b8e6-4c64-8dba-44a8ff40fcc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26c5aa74-3a8f-4749-9358-fc8ca70b07cc phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9678d993-6564-4e35-964a-04f7519fa26e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9635c4c4-1013-4f5c-9c4c-9c0aa5431157 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8399df1-97de-4b08-b8f7-63a444f123a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:61df4abf-76f9-443b-9d47-852292abd82c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29872562-0415-469e-b229-d060e2391e8c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:793ba37c-78dd-4fcd-a99c-90b6b10fcfde phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:adaa25bb-16a5-4ef2-9d1e-f2e889eb5fe1 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:be3a06c2-7aa8-4415-a9d7-2a69b13917b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:efa2b540-c7c9-41f7-9b0c-84643918e630 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:123716af-8125-4aac-9755-a7a8b8791513 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:505adfb1-3cad-4043-9c28-3a28c7557a46 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ae313295-5a20-48b8-a162-1d19000bcaf2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f18fc30-0a74-4524-92f9-43ddc4f70c1c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe5c38bf-6797-4808-85af-640496a46a55 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0cbff9a6-b881-4d36-b193-42b902a71496 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c6150ec-fbdb-4508-96c3-9c2b640438da phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:56100f04-d11a-449f-9dbf-aee245de32cc phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e3a2494-011d-4897-9afb-c9a9589365d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d199ea27-559d-42ca-8e3a-59ed2a9fc1a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a5f2d0e4-f814-4213-87de-928de14ded54 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f21db8c6-1a63-40ac-9cf8-a4c2ff480264 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:739d73de-2af4-43b4-ad09-a80bec8884f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:06ee5f15-ec9f-4b7e-9c6d-a34ecaab1550 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0aba4b0-f687-416b-a80b-7af37fe6b851 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6467549-f8df-4e1a-86f6-35ff2c0fbf1b phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ad19fe7-ee06-4a76-876e-b507ee9f4266 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ea1b683-91af-485c-a43c-e8de8ca86be4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bd74b83-3384-42a8-8a71-1e56e8f75b75 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59cdf52b-2bd3-47e8-91f0-52fcf21d1ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e50604c-550a-4e59-950c-ecb3a47b3e62 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11c9cd78-3d2e-4e13-9fa2-a8496bd5f112 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b90d3aa-d06a-4997-b037-d45d3dc2d0ea phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:790e76f2-3e5d-4497-829c-4b3c7b792f22 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:140db87e-f7b8-4d67-a317-9a4b430335f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3919444-4bd6-4c1d-8c5a-123f5004a92f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d38c3f9-292c-42ee-8abe-25a83d75dbd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8af45c15-2125-4c7e-a9c4-c5d85421e760 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fad53cf-f9ba-471d-b359-fca16208f881 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ead7be3e-574c-43c3-89b8-7aa553a60344 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcff0f91-e58e-48be-8408-b1a0959b4336 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5b1aac0-c8fa-4cfc-a356-f26ca32f4e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9f38812-3304-47f5-84d1-73212f766f66 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f62490e-d3ca-47d1-8ca1-b1988ee1fc8c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0d0fed5-dd79-465e-8ed4-49c66fda1cb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42ea82d9-284d-4fc3-b562-a9ded03b96ec phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd230c20-7c30-446f-b90c-209769d76e17 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75918ca8-fae0-42fe-8a6a-ffe37dffe0e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22c2c370-66c0-49b0-9611-1f07213e124b phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28b54072-8610-460c-9e95-503ccfbea030 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00812977-8eab-4df3-becc-8eef57030098 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:855e2a61-0881-4e55-8102-5bb72e4a854c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b598cd26-418a-43eb-a1a8-48f3c73a4133 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1405ee43-7213-4a7a-827a-600c5cf23e07 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9daa044f-f290-4008-884d-65d5c67fe039 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84c0eebe-93e8-4edd-8e45-171db8dbc229 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc3ab07c-dd5c-43b2-bbb7-e8bbc15c49b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dde13a0b-ecc6-4bd1-86d9-31563f7bcfb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d299ff3-18d4-4fe8-8528-39245d61fbad phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0194c85b-2443-4f80-ba49-8395236ed76f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cab4b52-4041-451e-a1d6-b3fec2060cd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b68a488a-b593-4e21-910d-3ed0c7fb8b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cefe96e4-c008-4108-ae07-d24600a50edd phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bffda97f-a062-41aa-a984-0daa822d8b5a phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3129edd9-fa8d-4c79-9888-9c93d0d4089f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58c6c241-6ccf-43b8-9621-afa70908365f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5484c896-3f13-4a39-92db-e573cba163d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:162d8fa7-d815-45c9-9c49-7b59a2c3a40a phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54ee1765-5a53-41b0-a5b4-67204e1fbfc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e9e6f16-67cf-4dd9-8089-95763ad35df7 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f7b5b283-7016-4611-a169-2f8bcc7346a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6288c281-21c3-4bad-99bb-a121f56300f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc709317-9329-486a-9238-618478a782da phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5aa1f308-060f-4aa7-8596-8d1ab0cf19f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea44508-ad0f-4887-9392-18a3ac15f07d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f72a1d18-41d5-41da-8551-b26cd6d76755 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a062a2d8-3a18-4cee-8b3a-dc1186678d64 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c117c3b0-5093-4500-b826-552bf8ae552f phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51406538-1d53-468d-9ae9-3b8eb991d08c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0c26768-2947-470e-ac25-26cf9f44aa46 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:747777da-9167-49eb-a782-68e40c6b5c48 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd0e461f-0d56-4834-8538-f0f0c5c10234 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42855c1a-f4f9-4703-9d84-04ed0736af34 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:518b6c51-cf5a-455c-8898-bf77c8edb182 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b071ff-2de5-4746-9993-07e2acbe88d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:689abf35-81a6-47a9-9843-f7283a8959d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ae1652f-f397-44c2-b436-690eb53a6cb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9c2094d-77a3-4204-8e4b-884bd30e3f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4fbf3e1-0ce9-41d1-8bf3-a3c3ae429bba phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a19ae74-ad26-4376-a203-a643f629be0c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09814047-9327-4348-9625-a9ac5f10f02a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa0eb419-2ad7-4731-a5bd-6717969c9b20 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76c0e717-4988-4900-9527-9cc26972d148 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70b015b0-f6eb-467a-9ed0-1fe16b548644 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfbf96cc-3f53-4016-8947-a3f320e415e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6673c9cf-fbd5-43d4-9c96-f1792e58f6ae phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c5869ec-3ff7-4498-8636-087aef83c6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26426a5a-c14a-4505-80a2-8915ce5578e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bec0c5c-14e9-4462-9185-c8bf297b9d74 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80410f91-32bc-466c-9705-1a036f8b32a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:115f033a-13d7-4ede-b1e6-eee82e97850a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0b7b1a0-1d0b-4415-87d1-0b795ad12760 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a58a7040-bebc-4f68-84a9-3f4e8e6f3f53 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d1b5811-6847-4b7b-85fd-9d70e69ce8e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c69cb95-5d9c-421d-a150-4a84aa602f2e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20da98a6-571d-4fa3-a797-6e6828d9d86e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b3903de-9a0f-44b8-a154-8a2f28dd2e23 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fee734fc-6a39-470a-a898-fa9e590a4bb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95db4793-b7bc-4e0a-a249-f9684107b2fa phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07e84318-6833-4fd3-bc92-89500f1781c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df528d9b-ee85-4e08-8bc8-eed7dc6ce709 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18121dc5-f811-41cc-a714-26fe4172cb6d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee5c185e-21fd-47b4-b7d7-1ed0f54139da phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21ce115f-c2fb-41aa-a135-d249eb1ff167 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a567db14-157f-46c8-8888-32056e769d7a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c84f1e-ef8f-4da6-a439-f13aa27927ac phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e207c347-d739-4dbf-ade5-340172874a9c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d002c80-00a1-476d-ac2d-89f758df069d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdf4f71e-d7c0-4334-9630-c5d8d8251019 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef0f7f68-b8b8-46b0-9b3f-4c3fc02d6587 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02090174-5ece-42c5-b185-f07e0127554c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04d1bf9a-a673-42d5-b349-0044850be5d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13baf480-41d8-44bc-ab4a-3ba13d0df9dc phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b16c5a5-af7d-4a0d-8d5b-b1ea1185362c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32e8dfaf-419a-4cc7-89f8-0d1626d59f5e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d1c5359-ac01-47bb-b114-d999099fab74 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c292400a-86ce-413b-a811-9ffbcad33e8d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a32a7f92-510a-40e0-8944-6b8c591e6abd phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db4ebcef-b43a-48d6-aea9-77ecf8a51881 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea53635f-5a4e-4944-98cc-1e40594391a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3dd057e-da0b-4b36-a2d3-1cf835ecf805 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99356b06-a915-4867-b883-80ea274d91f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a8d1d5e-d5b3-48dd-8dc5-707c6ea2bc15 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d30a93c6-fe43-4913-a1b2-263f931ebaa5 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af29b186-c41c-4841-8b13-8cc9d6088480 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ca3fccd3-b473-499a-ae7f-441dbf93fc6f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0de23c1-e457-4c85-88af-ef3d7837fe48 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a4bcc3a-bb7a-4625-83f6-19bc77db9a95 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:48d6fed9-04a2-450c-b751-03051270ab2c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1835c229-66c7-465a-b13d-7211b5786b07 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:62ec0ac4-91d4-477e-a792-1ecccb45d715 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6afa323b-c81e-4ba9-83e6-ee7ef7186ce1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e45d12df-106d-47d3-a480-fb90d26204e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab16654d-6ae7-4809-a477-e77049ec4a4f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f844f8ef-687e-42dd-b96e-a097dd59db52 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f7a4354f-efdf-4ed9-81ab-b0a415210f60 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3c6aa89b-11e9-4d6c-925e-c5fe626e7c6b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c15ec66-84af-42b4-860d-810eb9114345 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:566bfea8-53b6-4aff-a2f8-6b6b3cf14117 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aed40ecb-d8f7-4554-9f2f-04615e0eed8c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d92240d0-4dc1-4c73-831e-fd0057e6e1d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bdb662f8-2e9f-471f-9e12-b75ea860a0bb phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec351d2b-8d15-4ec3-b3b1-15d8359cda4e phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d129ff07-40a3-486f-96f2-0762e766cb61 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8cd6835-37db-40ea-8d6a-27ce0d3a3ce1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff0b5d6d-2eaa-4f0c-8e84-a471a1a386a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eef3c810-fb7a-4bf7-9707-34a236c466af phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3404cab-167a-4d52-87a8-a28e45a079f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002eee5f-af68-492a-86ed-734769206379 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:226b2fb2-8246-4343-a13e-f46d0f9eb3a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a1191e1-8f2f-4f6d-94b9-26c37b59ee0a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d02c06e2-d9db-43cd-a5b4-b6080842d09a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1eca1e72-7df5-4d4b-972d-76eaffaac5b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6afc32eb-22cb-401d-a235-946b0ca3a7f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8454c008-0fc0-455f-8702-80743f8e159a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46997a96-c8ad-4093-89d2-34b57373706b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb1683ea-c971-41fc-bc38-67d697f81b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b08db4dd-1556-4858-96e7-d01b14b04ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97b764fb-c31a-4da7-ba29-5b0e2b6cc003 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c1f454a-e0c7-4d36-b2d5-33082ac9c024 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e3a8b3e-e532-4eec-9e5c-6a8cc57d08e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:affcdb4b-7f94-4e8f-a8d5-15e4e6d773cf phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15906cbd-20a1-47e0-accf-a25d450afc39 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5a50acf-da0e-4113-a696-6f19b7e96d20 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f30d5e8-1f84-411b-af85-e9bc19f5e682 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fda6090-6051-4412-b0ca-39a183ea18b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:758c681e-296b-4574-8c9b-936a97e438ae phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35d86e0b-daf3-4ba9-9467-73e9fe28cdf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7c52196-4ba1-45a9-a149-75e89ffbcc61 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a689782-63ae-40ce-95e2-059475294d53 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:336dcb16-4410-4f8d-8608-0791d8bb13d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:395d00f7-17a0-4c28-8a31-bf7651362a79 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6aa9e9c-6168-4e16-81cf-75bbc15008c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e991c7-61ee-4e13-bce4-e9d36ea1609f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b9c982c-d06b-41de-ad1a-8bc443ef1725 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ccd7dc2-76e1-41b0-9893-4632c0270d70 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f1a3509-dc63-415e-b264-162280fa2324 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1aca477e-f5ae-4ebd-a7eb-de0b78a578d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3287bc63-2a94-4a14-88ae-098fdf4c2502 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feda4fb7-c31d-4abb-8af4-ad0dc4c82d1d phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62825b63-8193-41c7-817b-5985c9190a78 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8450ea86-6f51-4081-bd4d-03033b0d5d2b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c111ad66-abec-4b0e-9eb6-2b3a1ee57d77 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae64ace8-2121-487c-b6a4-97bcf5d76cf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:179e84af-ae4e-45c4-b668-fae6143e85a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae0341ea-5bf7-4d66-924d-17fd5faf9c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cd98b2b-86e1-4568-87aa-f83b86b03d89 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a4598e7-6143-4b97-827a-9315ab9f89fe phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bacb1bf0-6a6d-4cff-b12e-86125cfe8fd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a5cc7e2-b8e6-4a28-b271-3a3e794c336c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a8185f01-eb4f-4b0d-a55f-ee43bde78047 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:152e9487-54bc-4915-a031-919997b9dcef phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd66a954-cb84-4adc-b034-623ebc155c9b phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e2121b61-0e9d-4c30-999a-5d05634db16c phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5be53083-6727-48b2-ab2f-850908d42470 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e700fffa-4937-4280-b0ea-f3e38911d570 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca047437-583b-4b35-b405-cdcb4c27599a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c1937001-baa0-46f1-8d17-6999d547df2e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef0e881c-a653-4c00-8504-0e27fb0f0840 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b2be56ef-91fe-4b5f-aa3c-a42e7b10e004 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58f621f7-12d3-40fa-9853-103569b313c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47e963d3-5a67-4308-94fc-82f65d58afc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:034c2e50-02ca-4486-ab15-a16de85cd97f phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4b33acf-4d6c-4554-a3e7-d03f6f593b6d phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f98f9b04-5679-4d37-ab70-a00dde5cb3d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1e996a8-5dc5-4740-b5ee-27ff49c1ad14 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e96593b4-13fa-4f62-adce-fd6029fd0fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d60f54d-5009-4285-a7fd-2ca346194a29 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0f04cc2-0e7e-4467-a182-d833cd30e727 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61a1c1ab-3ef1-458b-9825-de3e049f27e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b23c4e0-78fb-435b-9c32-22f4789b8e06 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c289267-bc93-437f-8972-fb7f6fddb58b phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9738e664-a8de-42e5-a07b-91168a9437f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:087910b2-1e29-4c90-a052-32fa77ba6b35 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bfd0574-81e6-4baa-9813-4c4014b7c4c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:826216e6-d108-461d-a74f-aa91d87b52c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8e5a36b-3b75-43d5-a5a7-7a863e40319e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b5e3ff5-f155-4953-9a49-de427bf3c219 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e80a140-d231-4f2e-be58-c3b6a1b40063 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51f3a9b3-657d-405f-93be-74dd62a596de phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:050a4c7e-6f97-4fb9-b048-e3227ebdac1a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bae66167-1715-4820-aa6d-c730d2ecac5a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad5a2cf7-1929-48b6-9362-18581a15a278 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:468096fd-aba4-40f8-b8e8-833027f37f85 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10d6a664-c365-47dd-a462-cd3afb976f13 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ba861a4-47b2-4b43-a4de-4d401cc79826 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b1d8a34-7b41-41a7-90f2-a5d0a4ae6e5e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e87c236-4403-4797-815c-7251829e0ed7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b24233f4-be61-410e-8939-958798c69106 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8767f490-5034-4239-a4d8-b0e76be43973 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8709eed1-2c7d-4511-8ab8-17b1f0bfa6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b35cfaa3-785f-40eb-baa2-b528fb41f3c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f17c2628-9ea7-44f0-b9fc-fe913b971fa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:526972e1-3b9f-4c91-bd7d-ea2763d41dca phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4fa476bd-fc74-4940-aa2e-2d1a4214d732 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13b7f989-f51f-4cdc-99c9-eccc23295d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29e38ce7-7916-4e15-bae4-85596cd48536 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03fcddb6-932d-4879-a197-baf5ef15cf34 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d2ff17c-bcad-4be6-a944-d805702a88f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:196bc149-c7c8-44f0-b150-c58ea817d102 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02f7a050-6b1d-4ec1-996e-cdf181a23060 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa52f1ca-1492-430b-be4d-038b2e8791f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8b42b41-b408-41b8-9167-cd1806fe333f phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30a47a89-17df-4ac8-8fae-aec5707ef76d phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43349275-608e-4c29-b9ac-9ccb7c752a2c phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0de05fd-7a12-40a5-b946-ec645dc597b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecdd2c4a-55a2-408e-a1ab-f7f86c5b7c85 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:104a2d50-c2b6-4b8d-acda-fe9e3f3692e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd3a00ab-1100-411c-a2a4-e61c8573dc35 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f533720-0408-4926-a65e-97e2454ff2aa phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c55a6ec-3314-4df4-9c3a-e988d0919da5 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1eb36a94-32cb-4061-b882-7ec6c0fbbeaf phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70c2cde5-c720-45e2-9790-44aa4c7472bf phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08c9428c-8ba6-4be0-a5e0-34fd15dea299 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e9f95a0-16c7-4b1f-9241-4fb380d53f49 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:190521c7-38e2-4a4a-a0c0-607617f32135 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e06ff9e0-f77e-4980-83ff-78f9f7d32378 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b5ac0275-5cf0-44b1-8558-ebeff61f6310 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:163b36a6-c7a5-48ed-847b-11c5f8ae8d5a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:424de462-35ef-4f4c-b04a-e6c399958ea6 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db35ca6a-5c28-4c8e-b4ce-51d7e4616f01 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5224728e-e8c2-4cba-8f71-b69d72d8e76a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edfb4b2c-28ea-459b-ac5e-ed33cee2d752 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bed2ab5d-dda5-45c0-bb6e-628c1f81b3d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:524c84eb-4ad5-4647-a8cc-025215f8d309 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38fe4c3d-83f9-48c0-8b2f-5e884824cc51 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab8bca71-bb5d-4181-9744-365df0247f77 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1da681ba-42e6-4bde-b61e-fbe47452133d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:653fe6b0-418b-4b71-9929-50b96bb2bcdb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b93e4f4-02be-48bf-984c-fafb8a036618 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96e302ea-cd0a-4b74-bc69-8a214595e99f phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22aa215d-0e00-4644-81b1-e98469a2cef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c2d1c3a-8d4a-4961-bc07-f74d0b9a6a09 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43bf77b2-3c4b-415d-be77-282a4fab9e18 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9be312c2-2571-4abe-91ed-aeca41a6b06e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d2f67b-c594-4874-b49d-164321472ff4 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32fb5c0e-0f48-409f-bd6f-d2f9e7ea1b2d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a06ff145-1581-49cc-b52f-51ffeab5549a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cdc02d4-5834-4b35-9f98-f8a3fa424e06 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1a5fb67-d497-482c-8564-ea75ce900224 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0c53c77-5e1c-4cfc-a07c-3e2eea5c528d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaa27241-5676-4971-810c-4b4bb338a2c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:144f673c-82a2-4ec4-b182-96c084a1f7d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d69db266-d811-4710-8d2e-9c4bc692bd90 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd38f7b9-ddc0-401d-af49-c9151962684e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cad373e3-bbbf-432c-9a8b-4df68c4e62db phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:174a7ee1-49cc-499a-9602-523ef3dbb5f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d43b6df0-0492-41c7-bb54-0ed490e8a6bc phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:213c0d42-be02-442b-99a8-654734053a11 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6b1460-101a-4d40-9053-136887c865aa phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5c1b019-9d57-4d75-a885-c487c34b5f4c phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9f750b8-369e-44d9-a1cb-3f45ca5779f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:021a2293-a0a6-467c-96a9-7ad03cbd79d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7734578-f141-403d-bdf6-b008074554d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d5c456a-4735-4e86-9192-0e3ee5870a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac93ba56-56c2-4bd3-9688-bbbb0b883a8d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d911a4b0-327e-401f-9110-a4a80d262710 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ca925b4-10e5-4a6f-a151-52ac8172dae9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ca40078-de1b-474a-8390-78b9d9194234 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76faf81a-2671-4cc5-90a1-aabc1a7bdb2d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96bac752-e6ba-4099-8297-7bd3683ba3c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0477128b-f09a-4632-955e-555fb122e558 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b67a0aea-c988-406c-8d47-0b2e53324303 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9fdc408-15bf-4dec-a5ed-e45661b58d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e36f48f0-3e2e-4965-ab89-c184cdd820a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f97cd9f-5c84-44f7-894f-f368b108b123 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:831ff29f-7d81-4630-80b2-109e3f33a6e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dae343ff-c610-49f5-9d5b-58ce846c0a59 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31c50340-c6b1-4812-812e-534b3ba3210e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e181007-b671-4ca7-837f-94de48a12800 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81fd9886-f885-4056-8fae-58e1b8f532a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fcca846-7408-480a-913f-339e3d922a8e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:283f8910-5873-4925-8936-611765a3e0fb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98897d3f-f3f4-4296-a516-c4bc43379bfc phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:667d67fe-586d-4ccf-9391-71878d9d969f phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6b144b8-dac2-4b88-a2a5-cfc211456a0e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c3427a7-2c21-4421-8e6a-585133f8f8bb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a76a6a7f-fb9b-4dc7-b561-d2b0d6826093 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36ea2ab9-6c86-4989-9a45-6b08ae0461d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cddb5ac2-65f8-46b9-9a58-c1a23c659a66 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e4b61586-8fd4-4891-9a5b-0cb8679d76ac phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f52db8cc-1dfc-4eac-aeac-822de084fdc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36cc11ed-ebe7-4d36-ab68-cec3de27bc5f phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1bc18a3e-d7d4-449e-a961-d0217f29fa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09642799-f43b-47a8-826c-bda17f591551 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b0fc1f81-d7d2-4778-b97f-9c3035e8963e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:888c5ef3-e480-45d0-9a04-aba40e677411 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e652fd0-b561-45f4-9e44-4634f08349c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f063d89-b921-4f9c-9f0a-6530b0876725 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cb6a7d5-6347-49d9-9c4f-acffa1d0bf89 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e68ec837-de25-49e0-9c14-4d365f4a87dd phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e17952b2-58ae-4cd6-864e-5f5b577e48cb phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab5979bc-941d-4049-8f8d-7aa8d1f2f696 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7d85483-88f5-4efb-8c7e-d96f02112bac phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:deeb5ed0-eda8-4fde-aeb8-8240949d920c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fa8e5077-b727-41b7-97ad-675be3350f6d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9e4b5aea-54cd-4422-b8db-738e6c949fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd148714-0718-4e5f-8334-bf0a002b6a5e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d081b50c-fd06-49c7-a98c-6d17e0997107 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:85f5a8f9-61c8-4524-b5f3-07e15bf39617 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a57c117b-b5aa-416a-a3b6-21577cc5c475 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28c17cca-2396-4498-b1a2-2bb8fb4af1fc phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6ca67e2-90f6-48fb-8624-c1dd2d3ea275 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d8fad9d-4baf-4e85-9e5c-1dfcfcc22b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ba181d0-1d26-4dee-8394-ae6233b0614d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:229ca645-5542-4450-9561-7a8ef6b90178 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:583e5b6e-d847-4873-9dbe-a24f95510498 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11ff9855-4901-4eea-9290-79955341a1f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0a7aef45-372f-4584-9d85-1b4f42f9a89d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9df82770-7900-4a55-bdae-0bc1b4db855c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5cb7c96a-e495-4db9-8db8-7b08bceba341 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fb9a5ef-ba87-4046-a528-3640f3654eb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05635a35-6e69-4335-b1be-f9466059c642 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bf0c16c-faaf-474e-be91-2ee52bd4c0ec phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6e06dcf-044f-4771-b60b-eb566dcf7a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92eb03c2-2310-48fb-bb8e-d0ec950bbe49 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f31e38b-5e67-48ed-acde-f50c9123aa55 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f65473bc-4ae4-4805-9fd2-63907477b44b phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394f7d42-dd42-4066-9833-da8f4ecee85f phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11e72635-d86a-434d-bbb5-04c0fb455f5c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46e4f0b3-252e-444f-9fde-866999b34155 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67771005-dbd1-472d-8119-15dfcf0631d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69a7a8c7-f67f-42f6-b8cd-60d0757a1eb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3568ba33-5994-44b0-9034-79df33d0b19e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a061b279-5b56-4c9c-9384-37c7d711530d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55c61f9e-7271-4f34-b412-df31c5f726b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5b64a50-6d14-4da0-9e35-a4f147b22411 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b20b9f88-20a0-4256-9aea-a045da35fa19 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0ff342d-30b7-47c6-8134-fabe338d18aa phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b28ec4-a9de-439e-b0a2-3fa4bd07bb4c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31e748fd-a180-49bd-9c6a-9e324e6db8a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b392d967-e95c-4dd9-9bff-d9c5a2b4487b phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fca14cf-a170-4921-be56-d7d7ad3b5c49 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e167aad1-3c05-4b93-9201-4f0f9278355d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:579723ca-3601-493f-afff-ecb3c28fe90e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65153a49-6984-4b6e-bfc1-0e4b5285a250 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2de57e6d-8171-4299-9ab5-a9e3f9fb766c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb522883-748e-499c-9cd6-648d89d79886 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36244b12-b153-4df7-ba79-05d8228b5550 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6010d92-db9f-45c4-a102-17cfd9357a14 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39d50117-04d2-4ebd-b610-fbac35f688e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:925321c9-52f6-415f-a93b-41b53626d879 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1afbeb8-0e3b-400a-8f6d-8541c4ee4e29 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93a9a312-4d47-442a-8f40-5e9aa68c2a8c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed50f4a6-4e65-4022-aee6-456306fccbbe phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b2f62370-4c56-40df-b2f2-693b127345d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6e46f6a-41e1-444f-b70e-b2744fe73ca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:84876364-e00b-42e5-88b1-5fa5eecb63f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:031fd943-d43c-4a52-b65d-e524507e1a6f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:71817aee-83b1-4261-83e9-472a59bdf4ef phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c0f4992-f01a-4bb5-a748-668f2c8306c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c07ef86e-5098-4385-9ff4-ac88481b9bde phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af1eda63-7fe2-4231-8667-337195601104 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5874cc06-8044-4ded-91bd-27625e684308 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de32ca41-22fc-4ade-bb17-400658b79d76 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b5ef73c-7940-4067-aa1f-19486e7dec45 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec3124f4-0460-400b-9a9c-be061f3302d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a37684e-9479-4c7e-8a53-a363e61b3cbb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec1394de-dd48-46c5-b260-258cf898addb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:620a8b3e-d2a3-4896-bca0-11e2eef9f61f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3413e4f-3d54-4545-9b1b-5fb3eba50662 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a12279eb-b252-4a06-968e-1386b1cfd287 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:842fad31-9c65-4f99-bada-453229116390 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3ce1cee-8957-4abf-9fe7-d62eff70db0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9363941c-995a-42cd-a0fb-7c2d9a74bf85 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0af9b317-1be8-45ae-8859-8c296a49edcd phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd4199e2-3349-4b4d-9344-5369828c9071 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e8542a9-d63c-4228-ae0e-47970a779243 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6dfa223e-fe00-4245-9077-d6a5477cbb4b phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:110a32f5-a937-4558-84df-265836e64680 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fb8c3c8-b592-4ace-9a30-805a5dae41a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd245c56-d9ac-4f61-9d13-df9118a34f0c phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76021614-eebf-4e62-ac45-66a26b23ee84 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece9fac8-e61e-42d4-ade8-7c3600f0e9ae phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb1e5d78-7927-4da6-b8f2-54d6ef05ac4e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:160ff98d-7890-4ac4-95c4-9e1addc4e9d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b48200f4-7ec8-4b17-9e5d-7121c35b20db phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51dbd4a2-a7ba-4404-ab06-583310caa2fd phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60f972e5-a3bb-441d-b1e1-5aafc36583f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52ac0a0-ce7e-4ca9-8e69-34dd4686f781 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7deccdf-8170-4e38-a561-05c9fe24aeb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd8f56f8-47cf-4e9f-8c73-c24de2219973 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d9d4626-2dcb-4f3e-9dd0-13ebcfad21e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9f7343d-7b28-4d72-bebe-e029361ec54e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bad869b3-e887-46f6-9cea-3d94079673e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4b6a8a3-f2f6-426f-8a25-4895c0c2ef0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65897a7d-a3e6-443a-a13c-e6a40f886574 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be530a8e-634e-4650-8ead-3796bde36a8e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db88a2eb-327f-470c-be2e-fcd2c8b36b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e1d070d-ca70-4c6e-8b35-9a5d5f48f9aa phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e730069-f9c3-42df-a565-e3c85009aa0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:865e0010-5179-473e-b7ec-6a0b7d12c737 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7acf75f-fd5c-4c6a-9367-b2346f54daeb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c803d96-c177-406f-b794-c79443ae4e7a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:688125a6-e915-4553-9962-4edc04bf977b phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:037fb3b7-e865-475e-99bd-af13c2dbcc7a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42f5bd83-c0de-47b5-8e9b-5ace3a595baf phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f9d672e-cda2-4d73-a405-ed992aa0afc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d474e2b-273e-4d11-aedc-9caeb9a604ee phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a68783d3-9a24-42c3-8fe0-b385eea7fd51 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bbb2904-482c-4779-a026-abff18792fcc phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8d3811a-476c-4db7-891e-687719989ca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc9158b2-e63f-41f2-a7a5-5401429c26e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:257a7366-aa4f-44a1-b325-fe97b23076ee phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c77982e-b8bc-42d1-ac38-0c8f692bf123 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a3a976e-1d1a-452b-ba18-8d904b04f7f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35f31039-bb1c-431e-b9a8-22e6b6a3173d phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3eccb59b-140c-4ebc-aded-1d4283b44c9f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1f70e99-a0ca-4686-a3bc-74ebabc7bc02 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ddc1d66-764d-4b46-9d91-7b2c4c3e1090 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b7a75c20-ac2b-4105-8eb4-85828968fc5f phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2efcc140-1874-498f-bf24-179b2109ae3b phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0648bfce-7567-4456-a4ab-ad303b1499a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dac2796-3598-4c6c-b948-1ba6064ad926 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18b5efd0-06e7-4eab-9f47-b0e245826934 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:26bfd130-3a76-4f99-ae80-20fc49d08b9c phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7289ca4d-3353-42ac-828c-86bc1d5e5a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41568808-6b64-439c-835f-17d54dc374d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a8bb4f34-3f6e-484f-8aa7-37bdbc154004 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81cd6087-db42-4571-a084-fb6d55211247 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e7b4c51-2759-4b9b-bb2d-51942e388ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:564cc506-f92c-4ef6-9e0b-8506129f1fd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e7a5b07-f20d-49fb-8e0a-03715b89d4be phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8003998-cb3e-4a1e-a67e-e2089f919561 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0245d244-d472-43ea-a60d-d78c5d7fb7af phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab45299d-2dd6-40b8-ad5e-bf40def9624d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b86eea8-83b3-49a3-91f7-75c952afea48 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dd0e1fb-ab38-49e0-a477-32d5204f4647 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a443cb6-497e-47e0-a032-31a53b4f5a24 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f03f736-b397-461e-9478-5b5304d9ea68 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:852d7cd7-bedf-45ca-baf2-88dfe525ea66 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d987698a-0463-4155-acb2-972f9eacbd18 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fa8ef01-1de1-4af9-85f9-6e1b8415b2ee phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b3e0900-fc07-4e27-9213-5b5680d89e67 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d27722c7-1686-4f0f-882a-0cc8c452abd9 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fabe141-191c-4968-9235-19f1f8fe4fdd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:136f01cc-7577-4cdc-8294-7ba08bca3b88 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:674103cd-627c-4766-b176-66e3a727d78a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52e44e6-aa9d-4a46-8ed2-b2b11e84cea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfc638ba-9a96-4b6a-9e6c-2a53de6281da phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39d97862-a321-421d-badb-a9dae8b5b355 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41091325-7015-4b49-b3c1-b2fd8d2089e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0341343f-df9a-4777-9045-ab92e7ca3a1a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea1b05b2-b8c2-467a-97fe-f1dcc922a609 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fc8b8a9-be7f-4c0d-b5fe-b6f83aa6c5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26510bda-ad6d-442c-b23b-ff8610dc3cfd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d031829-7b87-4286-82e9-647cd705b55a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d34f556-5889-476f-9c2c-d86dbbe8a3cd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26b67e4d-9a99-4992-aa23-073be8b5fbe5 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a5d2f3a-304b-46bb-913c-3f1018e24602 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a51f29d-1ee3-4247-acc6-28e4248fc9ab phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2480635-56f4-444b-90d3-318d4a13797c phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:671d3629-08d2-4c24-b627-a13c838aaffc phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afe88d60-567a-4e94-bae3-4b3bd41a8a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98e27c6d-c56e-4581-96ee-4536450ae3ee phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9709cf6-7e98-4d4b-ab38-303ca96e7010 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b51150e5-1eea-4ed5-afbb-16d21a10f037 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5cce3fbb-149d-4b73-b926-5eb1d950d99d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c0ecbcd-ac80-46c1-b08e-6ffe5d25ea48 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2289f6c-04ac-4716-a764-f92d30c85141 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d80540bd-1164-4148-b650-76557d05109b phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6a41e72-7d15-464f-beca-452036f94a17 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:915789b6-e4e1-4161-829f-12b19d8f6c92 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b56b89d4-1b01-4346-99c8-8e35213a6436 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cb82aa5-8dab-4585-86ae-1695f435eb95 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f457b261-c2b9-4307-a8f3-aa9c7f9718d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bffb3218-75be-4241-bfc2-cd991126d623 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c188e3e1-d338-40eb-8491-2e33b7e8a0d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43b97d98-3413-43d6-aaa3-048067c608f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2b4ebf2-84c3-446c-98e0-dbcad51dff27 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c39f0fa4-f186-46b4-9f4e-2b72f588f9a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ec36cf-290f-43bd-a768-42b5c78dd6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e669a7f-5ed9-4098-81b8-7081df7d7017 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4fade21-a6ac-44df-ae1d-2fd3c0933921 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbe678e2-0b99-40b0-952d-a88fca36ea83 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcdc3d7a-b43c-4d00-b70e-67752e63e43d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e7eae37f-4d89-4b2f-af8e-8c9c0cb76018 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ea23c63f-9d7d-4f6d-b7c5-cb7441599e73 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8114f154-14b9-4c00-95fa-0c18d2660cb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:850c46fa-7252-493d-a8e1-b2f545232292 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:816cdc09-68cf-4a06-9e82-177ddfaa1a4f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4535a66a-2529-411f-b46e-12dc725c6b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02012ee2-e166-4b20-a43a-0c9b74430550 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3f51ba2-ae3f-483d-a23f-823db3e1cd8d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a59f1df1-47a5-458d-a160-d99f644ba231 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f369f33d-c268-49ac-98a1-85b9eb7fb872 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c83e81b-1cab-4c84-9295-8109e44a3026 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a0776a2-bd92-4b37-9f45-78c159165447 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:db7ebd14-0819-4a5e-9d7b-a91644908e38 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea70897-efda-4e13-8d08-f71ecb4e908c phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:15687df8-a7c0-432d-92e9-b6c6fd77784a phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:358974d8-a354-4f3a-b0d1-a1b40992a998 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e11835b-ed24-4be0-b00c-d778b7454bb8 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a38db071-80a3-47ee-b897-5f47e073e5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:533da785-5d75-4469-a91e-465768bc268e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1847ddab-9565-48c5-b34f-0135abe3b870 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821ffd86-4cb6-468b-8652-582ee27eac19 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58939bf4-6cbf-44b7-8c09-d0aaf25a878b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d10232f-7978-4228-bbc6-9d40b6adb366 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85dd2abd-97a8-4ad8-8bc1-33187cd55898 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bfdd2fb-c964-4db7-964f-7491568dead6 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13d7a0cc-4e1d-4933-b6e7-087843cb01eb phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9155ef98-3840-4239-8dea-ac7764fc188b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80e02484-31ff-46bc-a4db-ec23f5f589c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:789c0acd-3738-4687-94f0-96e1e3f24feb phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f77b6395-c86a-4263-aa06-c4e24b99b26d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1ee048a-17aa-4a02-bd10-af10ba155247 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c7c1135-3501-4eb8-ba73-53221c1fd134 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66b2f00e-d8fb-45e9-9ee1-fc9bf217751e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d7dd4a9-612a-4374-9370-a0e8e9e0e24d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb4fdc9d-6b6d-4228-923a-868d184d2b94 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e158c2a-15a0-47c7-a3af-0460c774c73f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24bba781-cefd-47d6-a917-5d642e9ee367 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f519feb6-cba7-4eb4-9e53-0d31dbd01984 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca7d11ac-c21f-419a-9f3e-cdc2ff041cf9 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8504a36f-370e-4484-9d0a-1670c12b1b5a phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37c15ce6-feee-47a1-aa92-3f49a23b18ef phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394c6c61-83b6-41de-873f-b9c402b5d189 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74786f92-3213-4d56-a2a4-c51c48a3b435 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c5aca00-f93c-4df6-8713-8f64323fb320 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fec20098-d3e7-491f-b54c-c53cdda83848 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a3d6823-1add-4627-b83e-110905014019 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c6ed5d4-e09a-4f94-9703-2b3bab47c5a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:68784f23-79d7-40b2-a37a-18698dccfb3e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c552c82-eb66-4197-9b1e-d041c8d802fc phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c45eb90-a86f-4f3d-b568-af30bc672a96 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d121966-71e4-4bbd-b807-bd08545b53fc phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3ae2340-3122-45a3-9646-6e48c93f646d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e54e7991-8841-4fb2-a3de-c41e031aadd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bf2f798-28fd-4c66-b721-2c8a7580cb6b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1a9333d-abfe-44a7-8655-21007b7f1d1f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a7c28ec-e193-4239-ac54-e749eabb2f20 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7826a689-218b-4d20-9185-9ce4b351ee65 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ef01452-9c8c-47e4-a79d-a1b33b8dffbf phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fb5429e-f371-439c-893a-25959ec8baa7 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e2b943c-572a-4925-a561-7f45d4c786c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:663b33bd-b0a5-4caa-9b71-7c1ace8a96aa phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb6974d-57a6-4e22-a0cf-d730de15a2db phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87b59501-1281-4057-a1f4-f7fa469be638 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39c5ec37-0dee-4b4b-94b8-770116af6a37 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb97b1ae-73d7-4e19-8334-136f42616081 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:740fa312-bc0b-409d-a088-433bc9d1e13f phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:64b79dda-b2b9-41ea-a626-72f15c023622 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:463aebae-9f89-482b-a5d3-129fee13d0c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3725592e-97f3-472f-9070-851361ec9cf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:19221a90-e9e8-4028-915e-327e23906e37 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c05ff936-1f9f-4af3-a18c-f1c67f234e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0632fa03-12cf-4eea-b87b-ead31f8c8ff5 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3374a283-061c-4fef-8ecf-f4edd7c4db26 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acfaf3b6-3b92-40c7-aae8-1128f8381668 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cddb1093-c654-4d2c-84b6-ccbf33977d00 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe298068-f2f6-4454-a620-f9ae3e92f55e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2b6a41c5-c9d5-422c-97f0-fa162533ba05 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41c77fa2-3467-495f-86ab-f483c0411767 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70148b2f-e2eb-4cc9-9155-071c008068db phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e4a5864-f10c-4f55-bf50-7e7dc611ad38 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:124e434f-5e6d-44ff-b329-8fbc51451ff6 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c63424d-7a2c-4d39-a4b5-fb25686ad37e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0522d71d-6e3f-4238-96bd-f03db6c0767b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7c568ac-5e6d-4014-8468-70fac2ddb283 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c2a336d-9032-498f-b245-1cab44954921 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c277c8e-0076-447f-8e3b-6e083c37127e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11bfb62c-866a-445c-98b2-24556c63a761 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb3fff2e-fe13-48e1-bcef-7b9d5bbf298c phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6b764a50-724d-4ae4-b152-cdfaccaeb041 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6583017-5596-4791-9a42-330ef6a06f98 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:170591e7-4a96-4a8e-8cc7-8375a1ee3317 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:100cc502-ad5f-4a5a-a3a4-fe1466dd6328 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9714ad9a-3b31-4796-8954-df53f80c7df8 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3562d5f-f14d-4b59-9386-44f88963d3e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c72122d-af4c-4da8-ba2c-e99bb7f4530e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ba73d9-2ed9-4066-8b7b-231cd1115ace phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3a3c08-e8ac-42e2-87ab-0c042b8ac2a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6489db3-6b7a-4f37-9301-00c4eed16813 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42210577-8916-4ab3-870e-78dcb55efe58 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:091c23d0-2580-4a30-a687-3413afd9be7e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf012568-f138-48dd-8677-89419ae698c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff82e17b-1d25-4ff6-8788-b4fbfd2e69e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4893bf07-166a-47d2-be59-32daac4553bf phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:948aef2e-6576-4cd6-b0c0-f79dee90946b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d04e501-d394-4d22-b843-25d6f1d84ede phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff6e9225-7a9f-4252-8e50-e4cc31703754 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78334230-0528-4b9d-b347-cac1475cd43e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eba0f55a-b3b9-4943-9d33-5acda52e5aab phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c21b713-5814-49bd-9712-02ddb45ec926 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76e55291-3d41-4291-b9c2-dffc2ce4a29d phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4a96c4d-2fff-4d12-b790-8719fbc75818 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96f7506d-ec91-4a19-abd1-3ccc8ace225d phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecd511ef-9d12-4c37-8242-d4c5648d462b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8642485c-28fb-4b40-82e8-f8f3fc925430 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf85935-8f12-42b6-b35a-6de12bf53ef8 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8105ffc2-1bea-41c8-8886-89eef0e2f470 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6982713a-2ba9-4f9d-b7a2-7bbf22bda516 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7df8a81a-25b3-4dc0-b841-e2bfdc303248 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1130b2aa-ea83-4718-8607-42c293649100 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a188f047-cd77-408f-9f7a-5f20f9a9e3e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:932ee32f-d849-4e3b-ae63-5c5a9e673cb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d911cc99-9db9-400d-8819-1655c1cf1e43 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fea13271-4221-4804-97bb-cc8625ee76a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98598133-c4c5-4424-9fbf-99b661a99639 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af9134eb-743e-4e6e-99a3-3e4dcdce332b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e135d68c-0c21-4262-8242-47856a7d4419 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efa19da6-7a74-45de-b5cd-c561941189e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b274448a-ffa1-4473-bb5a-d1637c8cdc52 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec653f7a-a486-4a52-82af-fb9b40ab8bbe phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6d4352d-b0aa-4c46-901e-7bad7235b721 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae3cf75a-ced3-40b9-bb7f-87104980355f phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4e289fcc-e095-4d1c-a513-822c8b3694c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1f00046a-b23d-4c19-8238-3b29c227c87c phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:90d5ddaf-c280-44f3-81c2-13308d59d2b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7ca1682-0dce-4978-8d91-3bac667b6aee phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e0e5a62-5fc9-42a4-93c1-ea52d0e1381f phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c2ea95a-89d6-4189-824e-5fb47781de0b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7da1d5a5-c19a-4ffd-843e-8926abebcbb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:22145084-24e9-4d62-b7b9-1c2b5a71c24a phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:430cbf09-9754-4aac-834f-da36dac99e94 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be8f58f9-8bff-4da0-972e-69f271194e42 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed4e6d55-dc7b-4ff5-bf69-d60e18820684 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ccc861-7e77-4261-bf3c-6d9da19c282c phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c14cba66-2226-42d6-9b01-70d3e307daf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e13aa6e8-ba55-4eb8-b62d-b14b0aa8e8f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69b3f6de-b957-4f8e-8bf2-1fb2ad7b79c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a488ef3e-e459-4a32-ac45-f5e2b19d2b3b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62eefb7f-3220-45a1-9c28-f5a054c61ec5 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c83ad9-80f6-4c43-8641-35fdf45defd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06ad0624-f818-4fbf-8be5-a82698e3fc68 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf893f03-9815-44dc-87d7-79ebb2bc1c76 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f98a02db-11d7-41bf-951c-bba00c850ed9 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0de404ac-c1c4-47f1-b768-3d903ecf997b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbae515f-19fe-441f-801f-6df41855cb61 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18bdd6d5-7efc-4071-b845-bbf2309f2264 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa052cee-73ed-4862-a47b-bea6c943c971 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8446f4b-e5a7-48ed-a79e-812b2f12db1b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec002dea-3772-4ee9-8b0d-925925996aa6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9830af3-3292-4e6d-a20a-46b6791c2209 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b91f026c-ff9b-4e16-9ae6-de5b9ec24877 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db2b722-140b-4545-a681-16fca733abe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:743102c9-3ee3-4956-93db-72203cb2ef86 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b590fc14-9375-4883-9cc2-f10c131a8121 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1fb8609-28a9-4d76-9ed3-3868cf5f9af6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:248ba873-4e9d-4454-ae4a-ab60deb43f66 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4eda2b10-a604-4a79-bfe6-4c8fcd4bba46 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d53bf1e-8fa0-4c3b-980f-947fee4fd971 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2beb26bd-1150-44f4-a3b5-a7758529d21e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89bd149c-1543-4745-9dab-72040c501267 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7411bc78-6fbd-4792-8bfc-b540f3fd0894 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cd0f5a0-6731-460a-87dc-dab0c7c0d47e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e8c3fb5-1e69-42a3-ae94-5996eec23555 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44109cbc-ceb9-4168-94ed-e4bd3acbb525 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:996923e8-1277-42aa-b0a5-cf69f2a532c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5729b29-4de7-4bef-9edc-a14b6baa4d31 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:698c7b1d-6030-4a79-a47f-182cefc2ecb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2679c42d-55d6-4905-a31c-3505815298a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c87585b-46a4-40dc-90a3-f970980e7ced phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b35eea81-897f-4505-bced-c79d8b27a7aa phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff4c4fc2-2940-4431-a97c-5f78630c4ea3 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7a6a0b6-af6a-4427-8745-9e0b33a6535e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bacd79e-633d-4d40-adce-8482d2bdf375 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f5c1612-f6e5-4a72-9400-a73076818f4f phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2102efb1-ff4a-4e93-817b-cacd63c8b4b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1e49b6f-5e90-4635-93ab-4b2e181a853a phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c006b2ca-b47b-48f9-a6e0-24090c773cbf phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf9f45ea-70fa-4f29-b571-d5f2ef4808c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c43324fc-c44f-4d9e-8614-1fc3e4ab7dc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c9148ef-7045-454e-a2e9-272075eaa104 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7646a84c-ebc8-4230-a6d5-24cd5996b8dd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a747dc42-2a7a-4e69-862a-752fa3db5d61 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c60d7ef-1d40-41ff-a5e9-3d72f8440c0d phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e0dcb12a-3691-43f7-a3ab-8186980b05e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:754bf5b4-842d-40db-a724-c1cfa92a694e phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5774a6e-65a7-40a3-8289-b7675cac717f phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e43c80eb-716f-486b-971b-d38de6aa2831 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fe61316-23f2-4c14-b55f-b029b3776772 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cc83bc2-a93b-4ad3-ba6b-268809ce3fa1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97211e6d-a48f-4368-bb0a-e696dda67062 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:603adffb-100d-4464-b301-b3cdfd364ea1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d5c3e81-7955-4d88-b946-00d21ace0d2c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83587029-6961-4e40-be18-d6411d6f65b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c60e200e-f29f-4240-b53f-563cc2b2c6a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb83caee-c5ad-42aa-8f01-247a5b3ed5de phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f08317b-03e2-4313-b629-7acc056f5e52 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dbb34fb2-b58e-4081-ada1-de453325381c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f54a8b5-4106-4a4a-bab2-610fa205ea98 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c986978d-8ba1-4f81-8f9f-aa50c5bceefd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fa6a2ba-bcb8-4a39-b98c-600ba6b99989 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc925f95-2af5-4ca9-8429-e0fc45efa945 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c76685a-1e3b-494f-83a8-2ace65b6d085 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1260a11d-00f9-4d20-abe7-0378b913e8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f9e1275-8f35-4849-975b-ba50eada628f phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4ee4f81-07e9-45ed-8407-4cb1e3e9adf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:652669c1-31f5-4a61-80a2-6744cfc245a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba4b3b0f-45ef-45c8-a350-5cb3a95d8a26 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40df8de8-beb3-4bf6-8510-8a2d5d034fc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334e9d52-9eeb-4f0b-847a-04c5c527df55 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:167431e7-c304-4a44-bc34-b8676a61ac6d phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d16e843-cb07-4977-bedb-064944ce57f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6248c6e2-649f-4662-8f3b-88dbff3eda96 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f639e01-c9be-4e2e-a855-b2e2ac92363a phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c42f177c-87ea-4984-a09a-bb6ff8dd6f85 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e1c70f6-f8fc-4f60-9cd3-b5ac4be6fe54 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd116ebb-48ed-427b-9f3f-d215aaf32596 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d2a6fb1-a00f-4d60-b819-f2777c9799a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27babec2-c49d-4f2f-a158-5ef2fd2c87d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3efc682-3870-4a99-a07a-3f2db04f314c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bf0f6b3-248c-48ef-947c-ee33c4aef9d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1c015de-f428-472d-82da-82797b92d113 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f5871b9-97d5-4274-a76a-26fdac743646 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3edff546-5230-4e7c-9760-23a43318ae81 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:984dd483-20fd-4d84-9c0f-9a3b162634a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3984d64-981e-42fd-86c8-1906fdb7e589 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8dd5c6c-4677-456b-b5df-26472667243b phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00de9c2e-0eb4-4d77-9099-d0730f020b93 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9b443c0-3bf9-4d1b-92fd-d91f06b3f7bf phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e903de89-493f-4818-a681-edcd174a8edf phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58fd776e-48f4-4f58-bfa4-4ab72ace213b phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de5e76de-f5b5-4ab0-976a-603f0be871a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e4206f6-7dc8-44a2-8cee-a6477f2ddf72 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8339adfb-debf-49f4-81ab-6940ff70f555 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0201b2c-3971-4272-ad37-03b7560377b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f052461b-764f-4318-b636-a739afb3e735 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04ae3e01-a134-4248-8ced-31619add1475 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb367fad-a8c4-4e81-a8bd-a40096423955 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f73b418-ce8c-468c-a636-c214f70f0603 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b65a28d-8902-4a27-ac5a-a17eebe8f650 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:458543ca-f703-45c6-9b16-1e76c28e123e phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd204769-2892-4a10-a93e-4db40db05183 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c89fd0a1-e349-4297-aec1-819927e359bd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:9713747e-7d29-4cd4-b4b5-966653025c6c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4821628-a608-462c-97e9-cf5a60ddaca4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a629e79c-aef6-41f9-9545-1aaaea49df5f phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0a8b6803-d798-44d2-8d75-4fbd167959b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9e7596de-e2cf-4f70-99a1-787dabceeaf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:621844b5-5e89-4852-a892-07a0c9d16f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ddc1adbd-287d-47ae-a55f-00f1676ea978 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8efa7637-6461-4ea0-9f95-c076cee867d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77d54450-4141-454b-828c-89d088558441 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:665ee898-d2c2-4955-910a-416c6e1c24ba phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a1f4ca3-8f91-449c-865f-9df7c2fac9f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d5da265-fbb6-4b0a-9c32-73e03a387649 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7e6f3cbd-c786-4ab6-8579-a5369a4b7f6d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8135946-3686-42db-b9be-5a58c8ef5195 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:410221a8-0a17-4878-88a0-4ac3fa9f127a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d303230-7e3a-4c21-bbf3-21ad345c4806 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c521597f-cad4-4cf7-971d-64e1f5a7c273 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b56968b9-208a-42a0-aa3d-02889211ac1b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3db66f4d-f12f-4488-b6f2-7ca54a103284 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18ace06f-7646-4175-abf4-646db91bca96 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:713ca9cf-1007-4cee-945d-aa8e61195c5c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fc14538-9cd9-4bc4-b550-cc41bc56ff67 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b3bed4e-fdb2-43cf-8a17-08fdb53f03c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cd31c2e-9aa5-4579-b7f8-069da7139332 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b619a76-5322-4bc7-84d5-49105eb71299 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c5dc42f-37a2-422b-99ff-b923a76dac4a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f933b9f1-ba0e-4317-ac04-23902cd6e1b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ceccc84-a570-401c-b61a-af6cdece1ee7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38e9ed5e-7b77-44f3-b54e-77734e68152c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc367df2-1427-42f5-a5af-f32e75945923 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baa9f99a-3809-4c96-8706-a211d0d03dc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd999b5-6040-4896-9f41-c257c992e236 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff5a2fdf-d39e-46ec-9510-f7025fc79033 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:573a5e97-d6b6-482a-b7e9-3c01f59368b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09a5ec6d-f28d-4cad-9f8f-59b48a9a4447 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3d87c55-4d49-4125-aff6-1e20687884f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c5b7506-f136-4d61-8163-d71db711622b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb3ff269-c089-4469-a0cc-32014aa817c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b297e2d-398b-4c28-b51a-b67202deca29 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a43f5cb6-0458-4cf6-a373-b7aeeeda49bf phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50dbb48d-1e7c-433c-a760-c82772faa054 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae2d77c7-7b44-4c8c-9937-f68a619a8190 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f52ef3f-a58b-4cce-81a0-cfbaa06ce7e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f945a0af-fddb-4ca9-bd31-1455ddf3733f phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84c30f04-7b61-4300-bb75-c50d6b8975f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d460559-71f6-46a4-a9e8-5c6d4cd0d05c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cc8e5af-53b9-4b3b-a52a-9add012354e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6e09afa-7ee8-454f-9f5e-c39283a725a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3aaa677d-3a5e-4e88-9d4e-4384e08ad81b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a4a48be-d5c5-4cb9-bdde-57f70bd52184 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f1894e3-8888-429f-8914-3c69e1b6f462 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18f0d764-c8a1-466a-a6b8-95e7bdef8dc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:79f895fb-b5fb-49c2-bdd3-468b1e02a12e phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85f914cf-ee92-4570-a109-a90de5816857 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b77bb65d-5913-4e72-bfe1-11371ae10fbb phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c8f6ebd-9fff-4557-8ab1-57a188a411ec phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66acf937-baf6-422d-9162-7612fd89d45d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f36e848a-f156-4f39-996e-00e9870d001b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:054e7b96-4723-4da4-99cd-a9ccc1b191db phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f4a1cc6-ba36-4b96-8290-6aba9027c938 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd86bdea-3361-4380-88ab-9af284d8df4d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43a04d94-69d0-4378-8898-dcf0344ae6b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdc8f8d3-5044-4bc7-a376-7ace00098e43 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:755b04e8-10d8-4f05-b4fb-0eb7f3f56ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:25027fc4-c865-486f-ba47-5205a414ba42 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fac73079-b73b-49aa-8259-d1baffdaa0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c690980d-21ea-4de5-b214-816a7705db60 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a189ef85-10e1-4774-bb97-2679beb82a87 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a772c4d2-d4e1-464b-971b-83b4c39c7412 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34d1bcae-3cd6-454c-8ba4-8ab49263001b phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ce85f495-713c-43dc-a5d2-449e826a00a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc67f018-36df-4e42-9f85-f159327ca0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec0c1b9c-3207-4e1e-a890-634ad9ccaef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11ea3046-9b4c-4b28-901b-be1f02ac5e48 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b0c796f-57b5-4867-a13e-1a2025f90c84 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0dc971dd-4a48-45cb-890e-76da2f76d08f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4bae2d71-34ab-484a-be53-8f69af9d41fa phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:440a1836-8d3b-4848-99cb-b2b37cee8ff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2197dba9-9abc-4806-ad60-c0ea11bc26c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f1943ee-add3-4310-9dd9-6d4c72161b78 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82ddcfb8-20a5-487e-a89f-82f4e3c1f3cf phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:027af235-b027-49b2-a433-4bc5ee82b29f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:01fcd7f2-8411-4986-a237-f5360a417df8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ac551df1-b1f7-4847-83a0-7363de198012 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eda4c16c-7daf-400b-a33a-e7a846686877 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:644f2560-a767-493d-a4ad-4cd9cbd69106 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb53e266-657b-4d87-895d-e2898557f418 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83d0284f-eb1b-4acd-a4f2-dc0bd7955cab phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faf6b7d8-6258-434f-8bd1-a4aba244938c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:206c83e1-78a7-4b54-a4a3-6f2106ffd8f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cbbdb78-b9dd-4272-886e-83967dcfea12 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64983c62-28d8-4a95-bba2-5d15091965e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7e29424-f687-45ba-8682-df5b79375001 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57e24176-2550-46ad-a98b-28c41f55bb8a phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42cdda10-5e9b-4f5d-b673-5b8a5e8e66e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6253f4a5-e744-458a-a74e-17093eea6856 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c042dc61-7c3a-43c3-9394-390658ad85ed phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bf2302f-9dab-4262-bcc2-51f62da23a6f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12f46635-63c2-45be-9301-fb2eea49044c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87036a88-1bdf-4291-bb0e-8649316e3b40 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:450e4eb0-a831-44cd-9ffb-2107e67492e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a1fd200-7e6e-44e6-b641-b82f29672abe phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:144da07f-5cc4-4484-9574-28ae5b221d5d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16b9d59f-92da-466c-abb7-bffc9b8a24bf phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22a92398-79a9-4ae2-a43c-fc028f0b219a phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5632b115-5de6-457b-8722-2909a252eb42 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d23d8d88-0fe3-4a98-bca6-fb0cd3009fe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b21e6e-551c-4c89-ba31-19d89dc622f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:293d48b2-cf3e-4739-a845-d7dcb2183948 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02823c4a-4cd9-49cd-9b72-08d8011948a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81ff99e5-169d-4a89-9857-e3a75b2d1358 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac8bb58b-4529-4d13-98fd-1125aacf9209 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:209a395c-8266-411e-9cbd-32f61e9f83a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d44ee73-169f-42d6-90e1-a146e64a6e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd65915e-1dd0-4760-84a3-d19b1f7373e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3cfc879-59bc-4366-8bd1-2aacb11f460d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2814a08f-fbde-49e4-86b9-c8bad04ded23 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d2a8de8-085c-40f5-91b4-66bbf4457220 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:250c0f20-53c1-4a22-9625-215538ca3516 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:723725de-44ee-4f1b-a932-ee52bb5b8bc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4489e996-eb3e-455b-82f8-3a20a7dcfdeb phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a020d67d-03e1-4b3f-baf2-bdfda7e12833 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:429579f8-0810-4a95-bdd5-cd3afbbc776c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:045974fa-d602-4b73-8db8-ff9db5514c03 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73736b31-4f2f-4203-b1b1-8a68d1b15c5b phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f38a4843-a235-49fe-87f4-f7daf8c1bcf4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:119330bf-3530-4ab5-a22b-7523d1fba806 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbe2d806-3ab9-443f-b942-3316de1edf49 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43d46f10-9fdf-4c44-8130-234f09d3ad80 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:30bf9dc1-608a-4785-9ff9-1a7ea2239514 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:daad0a33-f5f4-4e38-941f-af8f85a9aae4 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c24c4441-b3fd-4660-90fd-bd05bb5dc3d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87ceedd4-a284-4f84-94c3-733b06f77fb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:810a034d-851f-46c4-9a8b-a36ac0a16782 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12659c3c-23ba-4023-9cae-9725af14eba3 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0022e0c-98fc-48d8-926e-01dba2abb9ed phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c06ecab-789e-43e5-adeb-a63b8dd3db37 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b8786f77-bcb4-446e-b9b4-bcba0827465f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4d877193-5633-4ba1-8883-266fb1dff1b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:343065c2-5669-481c-87ca-0be5c40d7b27 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ac7ac0c-fa6f-42ae-88b6-763197530ada phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ae920c9-4f05-4a52-9631-570d33f0e32d phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:26c5d05b-5174-45b6-9e91-4234ac502b0f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:91777132-1687-40f6-b0f1-1fe6db5666b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f3dce2e-3049-4e64-9086-38acfb368d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:802f14a0-0181-4b62-b16a-39033f17f170 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e9afa4d-a8c6-4519-963a-e1744a6b413e phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:533f8efb-cbaf-4c7b-91bc-f32b78383cc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b56eb11d-76c4-4123-8beb-672c3cbe1a80 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b845d58e-bb07-4ee7-a3b9-5bc15cb68633 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fce0e16b-9f77-44dd-b427-e0249e4e1bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:619ddcd2-67a1-4eb3-bc99-84fcb03d2e05 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccae1ec0-246b-4508-b0ad-f4d9dc4e26c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f792949-a11c-41ba-8d0d-79cde67471ee phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47661c9b-552f-4225-8323-55c2bfff6580 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd647271-187f-4e05-98fd-764fe8cf00f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d5479ca-eb49-432c-b26c-4b812bcecd23 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a992662-cec7-41ab-a584-7cff3f8dabff phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc42e3fe-c292-4722-9e9c-c103065b972e phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98c0f45b-987a-451f-b870-da8fff749009 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30d348c9-8f32-4c41-8ec6-f4372173407c phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f7129e-5669-46da-958a-bb572f1dcbbe phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:172535fd-24a1-46e9-9b00-39107d0753f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc36013e-0e6e-45f4-989a-8ef61ff96726 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f47353c-cb2b-471b-bf75-652895635465 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f2da82e-717c-4971-be18-729a72742f87 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a054a217-a9be-4ef9-a01a-dd4d9b2fa553 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9b0a602-dc37-4796-b731-dbbc949a0404 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:986ebf10-4d93-45ef-a186-a0f7cdf8a417 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a71f11-c634-4379-a8fa-d7cc0e197e6c phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:782b5fad-d6eb-45f7-a365-48d4f408742b phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e2d1901-93d4-41e5-a681-0f3ef42df481 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73090ea5-9374-4712-84b4-f1f7f4a425ae phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ca8f5a-50c9-4dd5-abea-a1c53e35f44f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82206563-a062-42cf-8065-e70fa4bffca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e9a5f51-7570-47e2-893c-54b6a04ab201 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3279ed51-bd6a-4e51-ba9c-e714ad88f317 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e97ba53-49c4-4dc9-b324-11ab8af6cfec phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c10d8c5f-0741-4a7f-9a43-1d4b173de8df phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43e58291-e6e7-422b-b5dc-74e1f3ea50f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2405bf74-1883-4173-8e5a-fee6e9aa17e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17049a79-15c2-4a93-b699-716daf1b655a phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d65f113-cc3b-498d-a47f-d89a1d526b7d phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:937442c8-7444-4c62-b8a0-b35300f1e494 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b88ed643-b21f-43fa-8bdc-ee464097f623 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a4f72ce-7c53-4aa9-876d-a81ba9645af2 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e3eac5d-d0fc-4ae7-8a3f-dff4bbc1900b phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bebf1a71-bffe-4d32-8ccc-23b607c92fc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37a1c234-ca80-4ac7-87be-a56277a84958 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce5d23f5-2356-4643-a56a-9a2c94525a94 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0dcf966b-4740-4036-8580-8f51c3a9e965 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70bebbdd-7834-4f66-939e-7abba3ea96ad phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4739460f-bcef-407e-8b34-4ed1e5ffe4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:2e59ffab-5dbb-40de-9def-9824b61bd8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:763c7f43-cbf1-46b0-b1ba-9632f9979f6a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:becddf27-e521-4cb8-b890-6691987c6c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d449dd82-85cd-4852-abee-af8d2508c646 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5750396-cc5f-4153-a8af-466007f80d5a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a29ddbe-a023-46cc-8714-8f2c3983665e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8d1b60d9-3b94-44e0-b172-671827391f15 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a080570-8f0f-4592-80cd-f128f5cfb549 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9ed5d1e-5813-4f3b-8931-24b4e8815593 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1b62b2d2-778b-4772-8188-23847d82cd6e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:deb1858a-fe18-48a0-9391-1465945a32f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:361b2b62-90b5-4167-848b-32d8ec705738 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a78f905f-1956-4605-bbcc-8c4a75158b9b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b40ce49-abf9-4dec-ab07-5e8f7ad25da0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ede100a5-36cc-4563-a1c6-23beb78587d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43997b2f-c50e-4250-afae-9d9ccc916a73 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f86d1f43-e543-41f4-a55b-81a4051eda19 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9752b51c-74f8-4abe-9018-09c2d9490d9e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f3dbbd7-2095-4070-ac71-0fb7b899e69a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9330c0ec-b735-4b50-a14a-7b8f677765b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:205f10e5-ec0a-4a0e-aae1-cb1ac16d9032 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:640f06f3-83b0-465f-b0eb-fcb27e1d2def phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2894fff2-f256-44fa-af6a-1872ab23fab9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87e104a0-bd75-4c17-8efc-ca9eddf546f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:800c22b0-4ab8-4520-afe3-79ca5d2c3bd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55882d18-6d1e-4587-a243-61f1500a1c92 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f099fe87-daae-4c85-b244-7d44790cd2df phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c7fa52c-e4a1-45e7-b182-d89c0950ba49 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05d10d51-83be-42df-8e82-7d58c501230c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd8b31c0-4ebe-4e47-8fd1-e936a7b25a11 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7fa74a5-71d5-4ed7-9cd5-5a8a29ba3e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:124fc4dc-63b6-4e40-b930-308befe2778e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffda9b0c-fe6c-4f6b-9e75-bf12cdaa1bdd phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fefcec43-a217-42bd-a435-39907191692b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8686b46-7a36-48d5-bfc4-b51c2b95ea46 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd7c58b-d737-42c0-8983-bb4340d89e0d phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efa98d81-70be-448c-ae62-19f577746515 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f64cd1b7-e96b-4dca-bb71-87119472fa3e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ff9f824-07a6-40ba-87f9-e0390cb0c321 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fea2d0e6-d1e5-4355-92c1-3a08999fec8c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6098ea9e-092b-4053-a7ac-33549df05066 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1455cd2c-324b-45a7-8410-91fbae518b9a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a3ba538-860c-4ce0-8f03-f8761f74117e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b002cb8c-5959-4a15-8f31-c1bbc0fd2b1f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:481cb5e5-6cd2-41c3-93b6-d24267946f19 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14fd1851-d5ff-40b6-8fde-6d41b15bd739 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56dd1d54-3626-4b27-b638-a83371c0f96c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ea3f22e-8412-4c00-9224-13331e00d848 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0a9ed82-9a24-4d75-a2ab-1b2dcace3235 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8655ae1-1554-4262-bc09-9e4f90cfbe4f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65b8bf8b-548f-420a-a2ac-6ed2c482da82 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36e398a7-28c1-4922-83a3-75be6d3215d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52c771b-bec3-4bad-9c50-6349d45dc1f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a579a08-20af-4872-948a-b95fa9790a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46670dd2-5388-45e9-9bae-052090fe1f55 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be6461f9-edf8-44a7-ac91-35dfafffe0d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb80ee7b-da3d-4f75-b35c-7cda89ca8ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16174ef3-2f59-400f-934c-dcd329d533eb phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:115a66ed-3495-4b17-ada4-54c4f367c45b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1978a25b-8cc6-4094-964a-fdaf15bfe71f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:046df580-9ea0-4eff-9221-119692cb8fbf phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:489a177c-f142-4111-8a0f-25146003569e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:540b0a7b-bb75-47aa-8120-390ebc1d7f72 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b890022-dbff-40aa-9ca6-690377d82366 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f6a2d5b-29d7-4bf2-8d81-71285cca14df phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f3599aeb-f49e-4cae-95fc-9c425eb79e13 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cfd3f338-b3b2-4067-9528-98dffc687d22 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ea3a040-9641-414b-8531-554c73d817b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6ee84f0b-9f16-4c1e-ad45-1af269d95019 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:beb121f4-7e36-48a8-bf30-4728147d2d4c phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2153d1ed-4ae0-4ae6-8ffb-98d9f2e0c2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af3a64f1-3444-41b9-bda5-fa491868c985 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:369c3179-260b-4542-a3e2-883cdd6579ad phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:811acc9d-7b08-4c97-b7af-6c9e94e22786 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ca9d607-2aa0-44db-ad5a-043dcdc89ee5 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab337567-d4e8-4b00-9b85-0c606a87cfbc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c943471-b00e-415e-b4f3-d4e4795f1de3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a69960d2-2d99-45e1-bcc2-09886e8e7914 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:20e4bf96-2ab7-4ebc-8865-4b448b638f06 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e108e82-3258-4dde-887c-64626ace9676 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:439aa518-7fda-43d5-bbe4-ece499e1bac7 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdcbdccc-010a-46a0-a071-6b70ce9519c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c328da2-7957-4c73-a514-5e075a76dfb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:091db4b4-094d-47ce-be70-90c4567bfcc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d78ed4a-9c67-4350-a16d-5b1cd71ab10e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a39f76c-21cd-4e9c-808c-7b144ad894bc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecc2804a-0287-4edc-841a-eea3f68141fc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a2c158b-c31d-4591-b825-0e9acc17070d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31740bea-a5db-453a-9ea8-143c43b2a4fe phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da386da3-911b-4727-88fc-bc1c26df1d0e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4db13df9-3fb2-4803-90ca-73c4e519c6b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ff76f1c-3e50-4cd2-87a9-427e7cd18f77 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d6deda-33bd-4cef-8c1e-6d2ba06c3834 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d7217d0-ecdc-4924-b831-02aa1fcb0356 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26721f58-c58f-4563-9f1b-3916284ffca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:729a5f34-1b74-4276-89ba-2a710103e932 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5380d017-d25e-4b36-8483-5fa9ac706288 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ef967c4-cc7a-4c37-993f-8e10c88116ce phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25547185-866e-4f94-b744-1ec2beb36065 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7c1f09c-8a5d-4111-a9ee-88a6b2e06efe phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:436ebb98-4f63-4772-aaa1-1f14424e2b39 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f13ae3d-bb67-4eae-b834-289e70d7def4 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3eb76b7-2f86-46e6-9055-8e389a89921d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31379fcd-c6de-49e6-b579-19ade30ffa9d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b19476d0-b767-4952-ae9c-a68e6216c1af phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad181320-1a59-481b-84c3-e90f6a7c8500 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30d46711-819b-46e8-aa8f-d47492e552c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89147bfc-8a8b-4edc-948c-8db9f88c38a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec3c821f-fea2-44c9-b865-86d7a6a70116 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66063af3-97c3-4492-a348-989bd3408878 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10fdc991-57db-4fdd-a81d-4c511e0db232 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb300ad-db91-4660-a3d2-fef16a9f4729 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6daec159-f8ce-4161-bbc3-b7170d1896d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8058b08-894e-4a06-bfca-12d9061b53b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3989657-16bc-4b4e-a592-86ba3cc3f97f phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da338054-b55c-4a09-a979-b804a62d6918 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e306b349-3acb-4cd7-bf70-e1f8068db06c phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a80b260-aaee-446a-995a-314b592aaf30 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f812d52-259e-414d-898e-eb28234b5d70 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0925a0ac-6206-4d42-ba35-53a25db78408 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e0caab0-30e5-4be9-95b2-5669ace6e298 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19225ea6-ed9a-4e16-a09f-e39843c3339a phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46f092d3-1bce-4f37-8892-637d6df6eeae phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7ec37f0-d57f-491a-b047-aea09c89520e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feeceb38-ef30-450c-b70a-0cdeaafa79ae phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c68249b-fe82-47d1-bed7-d681cd10fdb8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a436c7d7-efb5-47f3-a5b8-12682228edaf phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2d52cbf-2341-459b-9292-ace0343545f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8b71f1d-6d1f-48b9-ac4b-2489a4a10e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a632f339-c1cb-4b5d-b987-ac749f1a23ee phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:435b10e5-5932-4b10-9d9a-3ea74ae16529 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f681ee1e-5e9a-4441-ae8b-464c0ebb7ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:777b4011-7eb1-4e81-90bd-bd5e491940ea phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e232e1e-cd4a-4919-86a2-5233315ce81a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b51ece27-cc1d-4a25-826b-797eacd546f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b1933fa-c2ca-485f-a645-4750f4987867 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93e275e7-c9f3-44ed-9548-4194350a0320 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c4e5b75-ffd5-4fb2-bf7d-ef1c3ffeba6b phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6676c9c8-18d3-4e93-abac-dc94d058542c phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:24665a1d-8e59-4627-a484-fb66a17c0af3 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1f9dea6-a542-4e50-a839-0a026ee68ec5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd5f3d7c-e275-4377-89ee-c10011dbc336 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6b36dc7-5208-42b9-91f3-37843dd14e3e phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:255a45bf-e90f-4ad8-8a77-c11611aa96bc phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9a65bcc-908c-49de-838c-8df0058547db phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a26c411-107a-4ea2-9c3f-267650333398 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5b3e8be-47e7-4409-b591-0b590c3779f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6af0f6a2-12b0-468c-ae4a-a3df860f5a82 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36169856-9265-4734-925c-1009ae662981 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1988a89-213a-48ea-a108-592e5ea4a55d phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:010cc785-bd51-4d95-a125-d2a3aec1e473 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39ffb9f0-22d7-42bb-bd63-b5ed78e27c27 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f9ec9854-e8e5-489c-8163-263670786103 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfdb2e19-5aa1-4d5c-92bf-80d55be741bd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffcc249f-2147-4be0-ab8c-7ab028e2b2ca phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de270e6e-6640-40d8-83b3-e4034a7839ab phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9beebbc2-7955-444f-8922-ad7062f7fe78 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d50aaf32-1d42-4276-b8c5-96fea7de83b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a92c9e1d-1517-4226-8aba-9a0bd3e746b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73f6f7d8-19be-487c-8376-b8f0c0dee4fd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:107efe86-1713-4d09-b627-56ca81b1d570 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f71ade0-0b84-48d6-a4eb-61a8f370cc1c phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0439cc6d-b2e0-4178-aadf-976a86c5a1de phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b58c6291-f5f5-4482-b84c-a971d582624b phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b558a87a-278a-4e79-a58e-b0c0b4159dc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eac298e9-18b5-4c34-b593-288914f18f51 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:137170b5-9c04-41d2-9ece-185e9df88a2e phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4007d0b-0597-45f1-ba59-9fa107b18356 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caadea1c-1803-47fc-9b09-d9b9b58730c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:531289c8-475e-40ba-b075-fe89724a5d26 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4470e809-e2b6-48b9-89d9-9171015d6178 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:010146db-70fb-49ba-91b8-9b5fd9a59e02 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af7e7586-0370-4b9f-98aa-bd7fa9c2d66d phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:960b72fe-60c3-42b3-857b-ee7238e2c505 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ab01baf-f137-4a3f-81e1-f0a94c898340 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cea10edd-8aea-4c26-bf8e-aca3b84ef4fd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:372c528d-5519-40b7-9a4d-509ed3d9113a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e344ed4-578c-488c-a8f8-cfb99f15dcc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e01c579-5e47-422d-ae61-48ac16ec59ad phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05aad2a0-fc6a-4b69-a449-402d4f31764a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34b9b975-fac7-447b-8115-a174464969a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d37eeeff-8add-4fc8-8a5c-bcb8517d2292 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42780e56-4832-41b4-9494-137a01a82f78 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16726ea3-6289-434a-ad47-8a5ff6632538 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77490992-0e3b-4101-8de5-4b4351fe6b06 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ec51257-a21a-4414-992d-ba9a4a661d71 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:146a5678-aa73-4051-80cc-4f40de873925 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c6572fc-3363-4b4e-a171-f3872b2078fa phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6f5992f-565d-4b37-96b1-987e2c665f14 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f62c4495-c719-4e1c-b0a7-caccac8264b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75b91327-1561-49a0-8db8-056d6d3ed826 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ed51471-7d58-4301-9497-12c07796af58 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1cdc313-3bf0-4f08-868c-fd2ec0e4101f phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f06ace60-26e1-4ebe-bbdd-e4df7e9fe441 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c0cdf49-4a34-4016-a8c1-811f1c8f9d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b80afcfa-4ddb-490d-b955-2ca6d79828e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:449832d1-0d2e-49b3-b050-eb1fecd7374b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95492d25-948c-47aa-8373-cdcad34b1ce7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e2f444b-8545-4cdf-ad6c-744641010429 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e68ec2b-3be9-4c4f-b26b-7fcc380da5eb phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41a14809-a6d1-455a-b5f2-3bc22d056c35 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba8f95f9-e593-4ca3-b70d-221db3a88343 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7e9e343-4633-4c90-8fa2-e1babcf9d084 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4084bb08-23e8-4bb4-b414-0d1e11f0c245 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:42182cbb-6fec-40c3-ba2b-61559d6d3396 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14d200c5-0cf2-498a-ad0f-2a5aa6d9767a phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e84ed21-266e-4037-9c42-cc8b8b5e4cb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83520d0a-d574-413e-be64-fad78c69f852 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d2ff0e94-366e-4d8e-ac07-42d599b1c941 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:997cac08-c31e-4bfd-b303-e60dec1d209e phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b0a406f4-ae50-4a33-8586-5e027383cbcb phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5c7b82c-a133-4bd9-9b68-f4c0f91fba09 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b78597fa-e464-46d2-b90c-aa1c27029f7a phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:27e77b7f-c157-4659-9f0d-d6c767a81cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2da62358-31b1-4cb8-9edd-fc0bf2196e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:989a0002-957e-4a9b-bd57-1ef47ae1d85b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95cd2fbc-32cb-43f3-842e-a3b491e106f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9b652d04-f025-4a2b-9166-f054926dc4af phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a398fe8-abb4-4a1d-b53e-2fe40f40965f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ba8d4ee-a4b7-46cc-8e0d-c82c83204390 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1ab6093-cede-4c7c-a840-1bfa7c52d372 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c693de1c-0fec-4f7a-92cf-cbe554946abf phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9564409f-d7de-42e5-8c8f-223b5f86ba4e phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfd8a5dc-ee60-4e22-8039-1201542b8fc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10c798ce-044c-4f4b-9759-a78c2f9de86f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d9fc2c7-7bb5-4fe6-ac66-b5730642a234 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88003898-f206-4dc2-ba8c-978b13a28d8b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d57ca569-b6a0-4f62-9974-b7a1fb0f396d phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bbe8763-517b-4e0c-823d-45f846a1d4ce phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bbe25b1-ed9f-4c6d-b920-023c3905b6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc568eb8-0560-482d-b943-431d77ece5e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ff32e87-c0d7-4da7-a3b1-dc9e03b01a6b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5640b0e-7e28-4bc3-aa9a-813e836a2351 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2eb24780-438c-4a3e-a840-586ca4ee8e03 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c97e6d5-1cde-4b4d-9322-aba038b338e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:930d3ba9-b162-41b6-b4ad-21a97fc0f9f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d100e8f2-900e-4acb-b6db-e3e9fd7fa012 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7b8df2d-2a57-4301-bd4e-b62c4b358f1f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:628498d0-2d11-426c-9b88-05a4ff2d2ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc09ea1a-71b1-4d2d-ac9b-65813bd64683 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3648d2-84d5-4e66-bcc3-3e3903d339a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71812e1b-dd2e-4d30-8ea2-d3921d03dbf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f07a8f3-2200-44c2-bd1b-2d70981855a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e301d0df-1722-408c-b2ed-7d43b3cd97a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0b70dc0-cac3-4f28-aa11-7d18d759eca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55ce71f3-d621-4091-9fb0-f24246507c7f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdc62288-0dfd-4339-be88-b2ab86be6bd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5c10092-5571-4fe6-9616-1584d5a59f3b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97795d5a-c5ad-478e-a0a4-e5faafc069b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9914efd3-99c7-4b81-b1c7-634c9b767db7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36dcb7cc-eb6c-49b9-9bd8-9dcb45a47f5b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282b00f1-a14c-4f8f-80e4-2924e54bedb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53144b5a-1c63-4f64-8336-f8786b3488bc phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bd647ad-2a20-4613-bb06-54ab66420b7b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bee07a2-2cb9-4bbe-8fbf-fa143a369d58 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a975505a-15f7-4faa-9b83-70639df20508 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:84ad9614-b00f-46b8-85c8-c2644a60abbe phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f5f9902a-4058-4614-ad6b-ad21032684ca phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ebc3ecb-a5b1-4b02-8efa-754be55a06ae phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70fa9f53-4772-4bdc-9086-a9cee7639284 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd373379-1666-4703-b9ae-0ca255c8c8ae phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b7db907-84c0-4e82-b258-13e9d1eb848c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dc31e0b-f229-4781-a2f0-b1227abb2a0b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e70d0d0-1740-45af-8cb1-9bdac6731b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7191587e-a4b4-4529-8829-142d66ed465b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad75da3f-b5f0-4109-a69f-36cc7f81c679 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:38ac5004-fb42-483c-a9bc-746a1a2e2b30 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cadf68a-be51-473f-b39e-f01302798352 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec76b5ef-ddb2-4ebf-a9d5-4eea955cf60e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7c98036b-36fd-439e-8dae-1c2fc1106a61 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:33822d96-5712-45aa-9a27-569a45c46572 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ebe941ce-e8f8-48a1-8fc0-fec22bb8ec72 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:631423e9-19bc-4224-bda5-806f7aea7ca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b73896cd-003c-4ba8-8ce7-62d922b55c33 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a766d0b9-8a2b-4c18-97f3-a18bbaff7cb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d2681c4-cf8e-4a16-832b-881f5172f6cd phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca49fc9-7347-41eb-8527-468f94f1792f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61570b70-e2da-4569-93ff-6c6d7dc841f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:439cbe8d-dbff-45a3-a107-44dc9adb2835 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a02b26b-8eb1-4aae-a44f-a76fcaf1529f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2354c74-6acc-402f-a213-e634471f86a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c9cdea0-1fc2-464a-83c7-e08c05689170 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fce2d6a6-dc49-4ffa-ac90-a5715fb802ba phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2dc9895f-472b-4cf7-a28f-89217e2d86aa phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba6e2ea5-cc1a-4e7e-8f3f-2ea61fc1f733 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa7308af-9b78-465a-809a-a2278047f605 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c72265f7-bd8b-4817-b964-5101a309e5a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ae1063a-2684-404b-a159-c2a282dce828 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc27c814-5af2-4dbc-b32c-de3461ebcc8f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d9ce8fb-2b1b-4239-b337-04c2038f9e85 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1f0f88-61f6-4dc1-b295-96a10777e9bc phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:167b2c0d-56e4-4713-af9c-43dcc58d8fb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7ddb46f-e7d6-4fb9-a7da-a93bb0f4ddd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c454eca-d220-4a72-8555-0f470e4454d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ce67e7e-ef51-4ffe-8c1d-d135cb28123c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31136201-ea25-431c-ba97-bbb31959329f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d5ca16f-1040-4c64-9a4c-2fc4f6081bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bbec8c5-1ec3-4215-b344-4fa65a908f9f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb6b272e-ccf8-42fa-9f49-d68ecf7f1d4e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:698f2091-dc31-4931-93d5-451d4e173e13 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6734f99d-f156-461c-a933-a34063433868 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177d915b-fbeb-4a98-adf2-f7f8d7067fa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff7935d4-3a6f-43a5-9cf9-1f67781dc8f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0efccf3c-a1f3-479c-b374-5165d856ab22 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12d07a1a-2b62-46cb-a52c-6bb84f6bd60c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2659ebc6-74c3-4796-b9da-2c1f37fa54ed phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3788cf82-9540-4aa3-b596-8dea5d864aca phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18a1de75-d701-4374-812c-ede18b5f09dd phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce5c4826-1bf2-42c7-be2d-e97fa64f382c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efedaa06-2148-4eaa-8d8f-0a244b357872 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0debba46-a65a-45eb-b6d5-f83011b6b61a phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d4ad0d0-bf1e-4381-b972-188c1b71a157 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd166063-9dc6-401c-8e20-9eb6d8db2680 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef020461-2d8b-41b1-b3c5-c09d5a91451c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b78f4f0e-407c-4de4-a4af-f8277c311d0e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fdf0401-c863-4fe5-b72b-16d15b5a6623 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bd24426-96de-47b7-b68d-910f9ca8d0fb phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37464021-6c6e-441a-b0da-4194951c4904 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c101783-f65b-4374-8954-36404ec3eef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a01aa83a-761b-404e-99e7-62c93c7e11fb phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa628dde-0bc7-4b68-81e6-f24bd39e989b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:6c7b6b5a-a12c-4155-bd85-a9018ae91d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54adba98-8297-4b32-a42b-d3817d0c4fc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:827e03fc-1731-4643-ba0b-b488f0260dae phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7523142c-aef8-44bf-a285-c9508f4ea03e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47447323-3b9a-4775-8d50-5c9cf593094c phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:756a0016-eb8e-43bf-b106-582411c190f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53a45a9b-9df9-48f4-a2db-5f451be087c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d906245-8e5e-47f1-aed8-dea6d4808910 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52df1079-10d9-433b-8fdd-bfbdb8bfdc44 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9d8d1019-74dd-4e6f-9b12-15ab12275626 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5600c4cd-7e17-4ed4-84eb-19c5ae72101a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e864036c-a8e2-4f9f-85a3-510f1f8c2614 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab49f18d-c953-41b0-99f1-16fc99cf2175 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4151e83c-793f-4499-bae6-e3cf3fc774a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee137349-df9f-4840-91fa-eab93909dfed phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d037eca5-96da-42d3-9a61-b713607bf7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d1dff877-f846-43ec-bdc8-eb8918497b09 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2c72aa4-24ab-42da-aaa0-c2a5ae8f671b phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f2e14e1-6c9c-4f6a-aa0b-3f0609a15c6f phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3a4b497-abb6-4d35-889d-34a837acfb03 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:607df98a-cb28-4bb8-9fc2-12c2dd26ab3c phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4a97fe3-e262-4ea2-b1fd-8be6d56e11ef phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8f351825-bdb2-49ac-a5aa-e63d9cf2ff96 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8171b4df-bd1f-4d6f-8783-afb4eb86fabc phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a06bd59-710e-4f17-b7f9-7a545eb1c93b phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9e3a774-a3fb-420a-aa1f-cd144d4b55f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14c04c69-ef72-4c0b-8e84-456b78908749 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca9ec7e6-98fd-4c89-b0ea-f40865e7c39d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01b97108-9551-465a-a04c-69f03c2c01cf phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dea9a46-b515-4aba-9df4-29aa9229f5bc phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cec6e32-daf3-4d8a-bde6-4eff3927fff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f44ff96f-fe68-4bcf-b4a8-6eebae78232a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:522a070e-c13c-493a-8a25-4b7fcffb3264 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:655bc5cd-5560-4417-b90b-42bbf9eac204 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39c04d6d-ff26-470f-8caf-8ca9488ae24d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cbfafb7-7632-48b0-90ee-c605ce1df995 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7343e74b-0ac7-4197-bc23-9395dce32432 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf81caba-780f-4ac5-ad5b-f2b508d107d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c8f3255-8a4b-48cb-b213-3a72620ed520 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad5623d4-54ad-46c0-8866-be77b8a17ad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f9a1235-0218-4793-bfd8-84f16bba7eb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8132e3c8-60c9-4775-8b09-911806704338 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:951b696a-6c5d-4d5f-8e0d-49243377b895 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a50f4e0-88d5-4e15-9024-0121f771b6e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06e4be08-a417-4ed0-a4a0-1a87654694d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b89d2cc-4db4-4ac0-a04e-2c4303c4cf10 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa526d7b-8a6c-41c2-b847-605addc4b306 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8979008-8b5a-480f-9270-ddcfad66af82 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddd89dd5-0c6f-4c0a-bfdb-6720ca14c4a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a90dfdd8-8fa5-4326-b41d-48c1ad86a485 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8186af6e-3275-4090-8800-c7f0b242d44e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecc22403-55e2-47a8-9e25-b2a1cbb4db6a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88ba6f6d-c5cf-4e53-b950-1be21da15e5e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece7dd79-858e-422b-95d6-f9649aad4c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1b10c55-db58-47ae-8615-7c947f527879 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db261e9-3853-40e4-bdcb-40dea8568b80 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f26cc319-fb92-4f26-803c-018efc478e7e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:525fe32a-738e-4e33-b548-8d34dea324d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90a37cef-7acf-438b-bccb-ca42024e4b3d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5719eabf-08cf-46ef-9231-432fb8e553c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a1d9df6-aa3c-468f-a8e8-8d60ce835217 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d528ede-9241-4060-8f2a-4b934540687a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee89459b-c15f-4b92-9e6d-2c4067cf4519 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c620c8-6e04-4872-a9df-41fe7d012180 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:427a810a-029d-4688-a418-14e89d20d635 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37418961-5012-457a-98a9-3bd83a5815bb phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:1f4f95b7-4413-4f69-a6cb-65d42eeef579 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:641fba45-b020-4eae-a776-ef007ae77c45 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3aaf765-43a7-4e7d-9f06-5ac08cad237a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4fb498a4-7c9c-44cc-ae26-a5385fef1cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3707105e-0b32-4709-81a9-d53306e27646 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a27b3fd6-1361-47f1-a595-dab2f03efa85 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:35db82e5-3f46-4507-8c13-dbcb2702fc95 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d82fb70c-6ca5-4a9f-9d61-f33efbd6d3fe phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e31e6d8-0ccc-4795-b99f-ddf8721455a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3742d611-7db0-4926-91f4-a94b90f76964 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a9f7097-4397-4c25-83e7-1dfb43c53328 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de5d784e-ca06-4129-b710-4071d4ef2f8a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:064058ce-3280-4bb5-8a8a-871e1721118a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0e137e86-d348-4d41-b740-7e5ee79f78cf phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f738528e-9782-4eb2-a994-0f75695fd083 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12e92f41-d207-42ac-a1b0-8ff6dc7faa37 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a7fcc583-21c9-4e33-929a-2f855e4b19b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:576c2e2f-c6ee-45f1-8a80-633a01c4108a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e33f31d7-8d86-4d5c-be8b-e748c730a60b phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55f7fc0d-ca86-4b49-a338-170304c32117 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d580ee40-0dd9-4bdf-990b-d928075c7a1f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:808b1783-e963-4cb0-a68f-06f86ddbf8a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7c4aa820-6ab0-44da-a1f8-8456ce19d714 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:24bd6f67-a932-4097-bf4a-f44bde995c3c phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334e4b12-e2e5-4bdc-afc4-f60d9d08ae1a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad397625-d67a-4f33-a7b7-71e8bf819788 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9156a70f-976f-4003-b51f-cdda9ce889e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b93d4c60-a5ea-4307-abf4-8fccf2740dfe phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:592c94ba-430c-4252-b656-e950839982b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:474fd75b-6c62-42e7-8537-ff3aaa169af3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90311f2a-20db-4059-a224-868ea3579e37 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33a32d97-7efc-43a4-bda7-6b219bc848e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d675ef93-ca33-4f04-bc95-2752570371bb phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e0a3a07-0dac-47b7-90a6-06dc76f9359f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12510c34-4b06-4cb3-85ca-508e5ad2134d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b70f0c6b-3b1f-4a6b-aa35-f42a5f48a4bc phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c5db1fb-a01d-45e6-bfab-a25470e660aa phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35f18a7b-2547-4b74-b956-ec718889fcc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:252f238a-9448-428f-be72-5fcf28ad40d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48982996-855c-4288-a2b1-291a2748d5af phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25aeb77c-ac1e-42b1-bfc2-682dd1899d5b phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:827944f1-a89d-4514-9cfa-0b1cbd68ec02 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:826cfe39-52b4-4632-9241-f59fbf979460 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64d24484-ec2b-48f0-8f1e-e3de4043682d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3290e97f-5768-473f-b8dd-fb52cf17e94e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24dcbe49-b303-462d-aea3-fa72f0851a53 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f560fa5f-a7e9-4c0c-8708-1999c028ca8f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65f0dd19-5f52-4a1a-9d7d-aae6d8762445 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c6f4a82-23d0-4814-b3c5-49a647345ae1 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9faa3e05-f3c7-4ae9-80f8-cdc858331c6e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29591bb0-8303-4ee5-8699-7abd85a1e085 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96646bbc-5b73-42df-bfa3-3fb27805c7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a64adc94-58f8-4360-acf3-b5af412dddb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:410cd98b-ef12-4359-8974-7673e611f38e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73283e90-4e48-475a-8e72-143aa5cd3c25 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e325124-ccc3-4308-9700-9147b990353e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a6dec9e-d422-4adf-a2a2-a964feca15da phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9a6f6c4-eef3-41ce-86cb-5a5c38c38a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f44bd5-a1e9-4456-9779-e49e97b9a077 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ad36770-cd55-439d-9cdd-4c2138af99cb phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60a7b48d-17ec-49f0-bb54-699ee4691d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c05ac8b-dbbd-426a-ad88-b117879a2297 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1379ee97-06d4-4ef1-a75f-fd460f51257a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7aa5f427-f254-4163-a979-18702c1093f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:666caab9-fb71-4fec-a46f-9b56145d3dbf phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e9546283-e2c7-4212-a740-ccb62538a059 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:440fca39-5fdd-4fb6-948c-d0fb07018275 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:01d3296a-f9ca-41cc-b0f1-a7cdec9a7e99 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b1711e7-db98-4688-aee1-26596afbbb13 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eff7c61d-7a04-48a4-a369-0eb1d4cd6494 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3081c17-5e54-416b-b59b-33f5886aa1d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e2e21d4-5d18-4e80-ab38-bd4a36394651 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:122dafe3-6b3e-4db9-b28e-3543001f96f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:45d1ca76-c7dc-4a12-aafa-bbc0bb75eb4b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a2991cac-95d5-435f-a1c1-a68e5c0c4067 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:100fa0ab-6461-4c61-b449-0d629db413ce phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec81aecb-cb98-42f5-ab99-fd3e73182441 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf555ab3-b250-452d-abd4-f20b01d841f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a8900cab-6df8-499f-8090-7aa61f1ff96c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:287ccbfa-103c-458c-b719-2b698c0bf30e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96d167d0-1aa4-4c49-bb82-bc524cf40236 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6697d840-4926-4001-8ac0-9f45eb862066 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4482349b-9894-4aaf-ac2a-8a4ed5e845c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6dd8876e-a104-4578-b591-c9be4b6574e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2aee306-82e0-4530-897f-539210a8c4de phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87276699-5373-43e7-9495-f35ac0c8abcd phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3facd63-1f10-4ed4-8f05-daa8d12ac47f phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b766033-59ec-4301-b246-218262609208 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4c18ee3-21c8-4733-8dfc-a696a9c82b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28b75e51-9c6d-4479-b33b-05419c9deb14 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9c67286-dd79-4962-9713-a02af0e1c648 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e1cd761-26fb-4d64-bb91-52fdfef498cf phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12b7d40d-73ba-46be-a5f8-13c1e529c78b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5d3d582-1bd2-41d3-b6c2-a73498ceb7a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d902c80-3b04-460d-80d7-05857eef1086 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a38f6456-0bb3-4116-b2ed-c73406726c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f78a2a5-a48d-447f-900f-3f75ae4abc39 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80ba28b5-4c31-44a3-bd50-ce0cc01711fc phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e6fdc02-7365-43de-95e7-3ea4eb53afba phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f78c02f-6eb7-456d-b992-d9ee55d8ae96 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33e400f6-e777-439a-9076-44e82805068c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0736929b-f817-4aed-a0bf-69fb090b96ca phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70530478-d1f4-4c2c-a022-be191fec89b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05c70d85-8ba7-473e-bca0-6a02bb2a8678 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e5d12c2-9450-47b0-8cd8-95331716a501 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0de44a98-6192-46af-aecb-077f60cf7c6e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bc87157-8948-4c78-8365-42ce5758112d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d52bc867-22ce-4771-ae23-8a4715d657c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3c69f5a-6408-4d69-b302-fea4292e016d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df96ebef-b599-4762-a412-4413268d4c1f phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f829d9f2-bf1f-4ce1-8364-30ed180e460b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae1b23a0-fef7-43d5-b042-e1a0689193bb phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffeba39e-1235-4a4e-8aa6-8e931da7696c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1f1d5df-c017-4e87-95f0-34b1dc382dfa phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc2be570-4006-4ec7-9174-bdc4a7f4448e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d6d69c-7469-4aa0-aa8a-f28413f63899 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9636e146-02b7-431e-995a-b6e8abf7e033 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e40233c0-1ad3-477a-8d3e-d63561810fa5 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c156f0eb-1574-4124-95d6-d5266398da0d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e724a82e-c4b3-4cb0-9686-eaa45746b0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76a63f5e-8cfb-4a7a-b1a6-5a3f1aaa500b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54bd4980-07bb-4264-9a57-74b26dd37ceb phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d29b1d40-9e21-456d-abf9-b64d0a7aca3e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ff13ea5-dcdc-45f6-a1b4-4b5d218619b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c58d0a67-aca4-4b6b-98c1-51c4de6e129b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84043d4b-b0e4-445c-a22c-05704c18ea1a phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac0ee962-3370-4f04-915c-0260af5fd7b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d591c1d-e7fc-4c6b-a1da-b458d15e6194 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f56c7a01-2cdd-4a86-b486-806a42495e70 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5376c73-1b65-4e89-a1c3-eb08868f2f03 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:37f75521-4c05-40cc-bdaf-ef56a385f740 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4437b700-946b-4885-82f2-e26004ba167b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5f5bc650-3dae-4e61-bf32-325e4fe4436f phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b588f5f9-8810-454c-a569-dde59bb1dfc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:298c06ce-0f74-4f4d-9a0c-46c715e43bb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:88c1859b-1b2b-40e5-bd19-8236960f9d31 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:be15235c-90c5-4f1b-affe-e142fbb0f780 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e85b0684-9f85-42bb-9ab4-01e8e69fd252 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6146e731-e0f6-4194-9148-2f5e4b978c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d79545ca-0720-4371-9390-dcacf6970707 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f57f5948-edf2-4751-a8e4-ddbad0e94cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ced8c7df-ea71-4c50-b007-88a8b8830a98 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9db4403-11aa-4cfc-b37d-71fae41ad6fb phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ca337c2-4316-40ad-945b-ad9e510eb66e phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8dbaa3da-9bb4-406a-b575-36c1938a3605 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5166f41a-e91e-46b9-965e-2f5c26669c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:974aae3f-7009-4b01-a54a-7953463a023b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:745ba7d1-bcab-4e88-8334-e14d312af3f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6c60a0c-bb1d-44c0-b4f0-3443908d4361 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:814bba03-d3cb-4c4b-b81a-8fb588cd4930 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff0c858f-9ce0-47f5-b65e-c6dcf2904615 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:868edfd0-5d6d-4306-96a0-2d60def9fada phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c903ee3-cd3f-4091-9486-587a8e1befcb phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00dce27b-c95f-4ec5-a82f-ab19bea4d60d phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:885ea97d-2e3b-4653-9051-f48371842144 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98aeb6a4-664f-4b43-8561-4a977735558b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b2682ba-e36f-4d8a-9809-c6f7bc3bbd4a phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6587e93-52fe-4be7-b38e-c7acc55e25fd phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51e6c4b0-72ea-44f7-9055-21afa29ffc49 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60891aa4-48e7-4f91-8ab2-b8d683aea2ea phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4db58fa-f298-48a4-9e43-59f9c26f2ddf phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1777122f-ffde-4dd0-ba5e-c21e89aa52ac phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75aa4efa-4a03-45a6-b521-2d25f0d9933b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acf34c3d-d82b-48e4-9fb5-f6f1390c50d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ce614e9-0650-413f-89e8-4f9043525276 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4d1b95f-b0f5-406c-a558-6f398298059b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5b70d1c7-ae57-408a-9b6b-a12616965a53 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12f1584c-b61a-4424-ab0d-030efb79d43b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d64b9f3-7f98-44a6-b1ef-2bea02045e63 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85f5c8f8-4f9a-499a-8da2-459c301f36ad phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3eb7eb2-9638-46e3-869f-761b5576a2de phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba3dd1ea-a0e3-485d-bce1-c98021f37f28 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ad8d046-4e97-49c1-a603-3b8727bb35c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:162d3ede-7c8d-43a8-b338-5f51f960ac9b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:916c6616-3009-418a-9d04-3ef86b612d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85cfcf86-2649-4ecc-b254-958890f7aa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d305c999-1d46-40bb-a9b1-62fa4b813bce phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caf4b0d0-52ce-4834-affc-260c1fe30c76 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e27527a-2ee2-4c92-8144-45d8d3cede74 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98c4f1d9-88bf-4569-bb82-c9be595ff1e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:519506e8-0f08-46fb-a317-b3210356ef2f phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece40276-2233-4ce5-92df-1fad23620837 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfdbfba1-a483-411c-b02c-799697bc27c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e8ca71f-ada6-4d4d-bd77-099d8bbd7244 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6ea4d10-086c-4bb6-a6fa-4bdb2359046a phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3a2f2ac-13e1-4ff6-8f61-972e84b87936 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b05af797-20e1-4035-905f-753714077a39 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f541876e-935e-486f-9321-b054235e9f9b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f225c8c6-a714-455f-8e00-23e9962d2dab phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ad600b8-16b4-4f2b-9375-bb5da17d6d83 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1687713c-2397-4d50-9f16-573b32908b25 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aeba4cdd-a49e-4962-b9ac-7e18ee7be484 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6356de56-85b9-4fba-a928-40377aebf140 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7eb5a3f0-9d22-4722-a0a4-4995931db5a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e0cb9d1-4a4b-4bb4-a0a1-28f04c46b8ec phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:679c3f8c-5ae5-4a69-864a-f97fdb8e6062 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5708f7a9-7759-4b03-8809-2e34e6fb1f39 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2b8456c9-3ee4-4c58-b15c-b39fc7f4f408 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f18b2a10-11ae-45b0-8862-8fa376deb532 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6765d447-5f66-4152-a934-734166fc5c6f phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:19078af3-3341-428e-984b-d37ab784a473 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1def4e84-70dc-46d1-82ad-9b85c4745ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03ed77fb-b8ce-4c42-a1a7-783801ab7722 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c4bf439-8bf3-46b9-8316-ae1390f4e9a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:360f73f2-600c-4a90-8847-711bae4ac7c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1d21931-826a-4e94-ad54-f2018ef7b4ff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:15cb6fe4-9a50-4850-8034-a2a864a587ec phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3bd3184-35a3-47bf-af83-a164608349d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65b6c28f-c22b-4c5c-a005-bf432885be76 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5df1abac-200e-443e-9688-fc7f4def6cff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca1e956-c03f-488f-a0d8-0321963a19c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:900e6351-fa25-4449-b88e-2b9ad84c382f phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd30cb24-f024-4ed7-9ec7-ca97df787b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e20f943-a39a-4d56-a639-bd8bbca7e4e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:913dda72-9242-4066-bc16-f3a3e1a785dc phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf6d7963-9eff-4c7f-b1b9-3ed3375fb72b phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b14fc233-bc99-446d-bf9b-43435e032952 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab356d23-9a40-4013-b504-7252d5c7dfd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87828bbb-d101-4e6b-918f-fadc971ff369 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:491b7812-df0d-4a44-95b9-1243c3aa0be9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19c1ba08-294a-481f-b97f-436bfc6b05ad phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85a12f77-17d7-4040-809b-8fd68f8860ce phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:537f4b4c-b87a-4610-a18a-66ca07558eff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:877bfcef-c272-403c-bcbc-fc95acbdff6a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d06718d1-0422-4e7a-8bc9-681510fa887a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f6b911d-223c-478c-80f3-904d8e4c7540 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6a27f98-f7d0-4e3b-9c84-ef806ec32bfe phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a6ce61a-4074-4b25-bace-1c841b31866e phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afbbedf3-ad8b-42ce-98d4-dad48c9c969b phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d50e6fb6-c99c-414c-aad3-3b4fe2088880 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94b64b1f-a28f-4575-8680-436626b27456 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ec67503-5ba5-4551-8bbc-3274f645bdc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c31c6924-b0dd-46ed-a8a7-7b40a041b7a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:213723cc-95ac-46a7-9ac9-aa70f8a33595 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f84a42c-768e-4021-8b62-201f21e3862d phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc7bb3f5-dccf-4636-b8e1-84c0fc8768fa phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d0b4954-ea40-414f-b74f-30aa7097d4b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbc6e855-02c5-42c9-8bb8-bd4c3d5470bb phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:656b6234-a61d-451b-a873-14291ba1bbe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:268a3cd6-9dd5-472f-8164-13bc74d0496e phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3defbebe-9a2e-462b-8fb6-c2edffd99250 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f552d039-7804-4e3b-b456-e5b619814478 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f7b5b9f-8da9-4223-9680-f96b76542675 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5f2c597-b801-4d90-8125-17fa6f2acd9c phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8556ecf-aa04-4d21-a7f1-67e5b52b95a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c54e604-5465-4208-8c1d-3aa079690671 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e60973b6-485b-4b43-99e9-4f43d6bca8c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd9bcb66-18fb-4c39-b35d-86dd702a6609 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf56abc-2298-4735-842a-daa24bfafb42 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cb5ef33-2c5b-4c98-9e85-90ba7620a7f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7a49c6-5dfc-4c08-bc25-e00bd66abce5 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cfd3b63-85b1-4c7e-a2f5-42ecb8e05429 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2001886d-1e6e-4c22-a1fc-46a8c02f8a01 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1547b07-bdea-4055-98cf-fd3c3ad3bc20 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f246dc9c-10ea-4c40-bf59-4f3bdcfac3c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d2c58ae-6802-4358-9fd9-7f7317eed5d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f14e21-f18f-444d-9437-76a1b99ba67a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c704fe2-5b4f-46ef-9ec9-ae3424026455 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe323c87-0d56-488d-a603-535b4997cf17 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67d5ded8-5c93-4c46-9dba-6a6a8ddaecaf phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b6e47517-89d9-4324-a85e-ae86bc9a25e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09829075-1c58-4ff2-8431-a14209f9d791 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4babc568-4703-45f5-9795-45c621d9e4bc phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c2b73f2-6aff-494e-ba12-dc34b7fe7000 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:295a0387-4886-448e-a182-b65c1301c0c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b301d23-a1e1-457d-bd9f-61490e1c31d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9ee3cacb-d2ff-4223-adba-b209b53bc2df phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a4648bf-5542-48e9-8312-24032ab585fb phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0bca335e-162e-42aa-b28f-8419ace1c39a phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28685002-fb64-431c-96ab-c59db10de378 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a4f9a18-5a2a-464f-a39d-cb542a1b5e51 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b5c9c03-ba48-45c3-9c9f-78fcd724edf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f81dad18-21bf-4226-b977-e8dd1b63f11b phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d751919d-d868-491b-a254-788b786c5f3b phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b30a7f7-1e03-4753-a863-594956e0353a phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55e1c850-5781-44d3-94b6-6cc1a9a3f0c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:717d5c54-32cc-4e03-a206-60045ed62bab phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23c841b7-70a3-4ed5-ac2b-c37bdc38bad5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e4ecf11-8977-48fb-8a12-08ca56a711ad phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b1e5f3b-a5b9-46e3-bd29-efe49a5cc6df phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f4ccf90-b540-4454-91b5-d2bc0e4570d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccc0e719-7335-4bf8-b490-68590428c40f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6f86d16-e66e-494e-be16-c10752c4a627 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12465257-c9ab-4cfd-92b4-9bb0921f64cd phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73a4a217-c5e5-4bae-9ef2-050479120482 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf5a09ff-207e-4d93-acae-ff19b9de5306 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeba9567-868a-4605-a9ef-876565e7187c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46de108b-d08e-419c-ba35-c5e1ce8329fc phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bee8a726-7823-4bd8-951c-7f93644bee20 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa3c20eb-0259-4a1b-b6b1-f93cdcc54e0e phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf7ca443-162e-44d8-ab0b-7571b650b198 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec31c3ff-a76b-43ae-9b2a-48e65a5c7d40 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:529e6667-cb71-410f-b5b5-1c9d6f2d763d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ca1abf5-4534-470a-b68f-0756a68af682 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:def59cac-e351-404d-a7dd-d2d1a8a540ff phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c19d4f2-a8af-4b51-bcfd-a96edc281436 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ddf0798-f711-4602-995c-e51a372dc3c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ea91473-b0bc-4f17-8a9a-9f2ebbce04d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da7079ce-17f3-4ac5-a11e-1c9e382cd6c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2a7b057-c904-418d-8e20-68dbb44f7a9d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8daa779d-408a-49eb-ab15-e4a2b308d3af phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d92abf23-5a2d-4567-b0e4-30f1284fd4c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6456a33-a643-4cfd-b972-fb01a9b08571 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c87643b-f4de-4c69-8404-5196146903d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa2d4f51-04c4-41df-9eb0-d4483d703c29 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c68f2ef2-edde-4e83-9475-ebc8bc2cf272 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee02afa1-8acd-4d91-836f-1ff7b2f2705e phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e83d8b91-3ba7-40b0-bffd-363969d1a48d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1ff1e84-4961-4745-a196-9213f6b2d61f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f4f4cc2-62d3-47f8-a145-5698ba4bcc3c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48099a59-e48c-480f-a71b-96921aec041f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01e26e2f-f1fc-4632-9352-d8b7d2c55fdf phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:68be20ed-c9ca-4146-bba6-7aae359b0226 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e741fa5-a9f7-47ba-94ff-bb6d8b5727ae phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bc038a6-b0cf-4056-80ca-aac6deffd2b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6450c622-62fc-4c8c-b86a-d1bfbbeb207c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fbdd16b6-e41e-4290-a843-335b1e2e9cc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc9837fa-d0d3-4ed0-a1e6-a296148fe7d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07aaf6bc-8cfc-434f-9495-6ed5481a7330 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:998f3f42-15e6-40a8-b758-963bb42296e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:91c5a4e2-ff2f-44ea-bc62-572ddb408e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:122e8d6e-f167-4066-ae4e-676a82fe7846 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f5af161-3097-4033-9e9a-93b870e48707 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b46e463-4b5d-464c-bded-886ac46df487 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:401746d8-d1eb-4670-8e76-202828290709 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:6081ae23-f8c8-4592-a521-5bbd60376d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c4719fd-7fde-4a62-8ee5-4ed810ae40dd phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef22d040-5554-44ee-866e-6c9c3bc3e97f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c42c0b96-8351-4988-8efd-d1b75f359eeb phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d584bc68-b41a-4a4d-9b14-16f4219f8a21 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de9ae2c3-c6b9-4075-a7e6-a6a66a45a09b phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4297fb9f-c08c-4c8b-9849-c13301bf01de phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76f6cdbe-0e5a-462b-b9e5-5c5e7938d86e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:50635dcf-ebd1-4fc3-a786-f83131db3ff6 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1248418e-54ba-4f45-bc76-980115402705 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e31b9de7-6224-47f9-8bc1-777859f01fe3 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb92ae22-dde8-4167-8d4d-c9804085851c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aa3bb7e-79c3-4dcc-b48b-ea886794bf3f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1e00048-6496-41a8-8cc0-1f8ffef0eca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc093a4f-06d5-4e69-8db0-b3ee961099bc phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6f225b5-356c-417b-b659-fe6e5b05086d phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4bdba598-2d19-4b6d-8a70-241f8481e608 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef8466c0-fa72-4688-a111-64b0d17d64d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93be7980-60b5-4b52-86c1-298e7213c2be phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:27a9917e-a63f-4ddf-88fd-5a7fb26247af phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aaf33a2-d775-4355-9f19-05f674077268 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f5c414a-511e-484d-8be0-67f97ecb045f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13b97d3b-8b96-4a65-9e4b-135cbfdd9c2f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:48682086-46b0-4466-9c7b-2132ec710017 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d8ff63a3-091e-4efa-b386-2fd7fd4648fe phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e846d75f-d9d7-468f-855d-064dc8abd106 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:679a6814-ef63-403f-ac87-95e0c9d93ada phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18c5160b-e2f4-464c-b364-bc587704834c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfa9d754-1dfe-4068-b54a-414dcf4a4324 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:899f5a6d-c239-4959-8403-aa46f3ba66e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea25f848-396c-4f54-8e3c-9592a0b0b76c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:671566b7-59a7-4f80-b3cb-701c6ced4a96 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb1b132f-ef75-4ed8-a084-41df02299403 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fa0b431-62c3-4a26-993c-df45731e40d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73819bb0-c1c9-4244-8298-513cc80d322e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0dbf7c0-3010-46f6-b624-de74c983bf62 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61518e72-a38d-49bc-bc8c-b4e45e0bdfb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed64fa21-107f-4a0d-9f92-699bcb0aebc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75e7cfd7-2369-44eb-b59f-fbb95c35e2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:040d10a2-310d-4cc8-a495-12e40477312c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dbabb51-dc48-43bd-85e1-effd603f8110 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:595681cd-3664-4fb4-a20a-68de961feb18 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:841fdb09-f7db-47ba-8641-acf8c8fd358c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19e18223-86d0-49ce-8eb2-ad45bee4553b phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bf872ef-2d11-4f20-8057-d8e39c168af7 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2aeb22cc-2aa2-4812-8c63-56b8bea60e69 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7fc660e-d053-4f11-9f76-cae0a490eccd phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff6799c8-9689-43ea-bb0e-5b56d092034e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fd807a2-a965-452a-8fc8-53de88b8b4ef phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85fc274b-5952-46d8-b276-b18828c8e047 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbab41b5-7189-4092-81f0-4612c5825798 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8003143-be3d-43ec-b5d5-a7c45ce7f578 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3855316-b1e1-45aa-abb2-705e4a4f65fb phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c4c9af2-9f3c-4097-b5c0-86f07b7396ae phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b615c3cf-8d42-4d19-95a9-c951543689b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5b9965a3-6baa-4c7b-b7cc-d05ae25a2e66 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f680609e-dbe0-4861-a0ba-ecb0f09ad37d phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eefe4ea7-f5f8-4a27-9223-b527bc6a83d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c341f582-1094-4d2f-8ec9-5b5e327e7266 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f64dc7ad-3615-4ca2-be2b-75156ad4e69e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59703b6e-225b-40f4-8b9f-8e97eb012f16 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed78d022-ecf1-4e55-a898-422be5be2eae phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80dc321b-fba9-4ff8-96ba-21e2d7268e39 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84a25d6a-dee7-4b82-9225-bcb097127b26 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31778b63-4b67-4a41-b8df-d8c260dde7d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:fbcc914e-b0ce-4b2a-91c1-4df2b6958eb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b65cc3a-4890-4a3e-b133-716c2afd70f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dd9d13a1-ad76-4bfd-b84f-23436d109fa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc5265ff-128a-4128-b03a-689e653cc84c phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc2f7af7-3be8-4f9e-be5d-26a39e3a6044 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b84237e6-dcf5-4ecf-9e63-af4a23f65b65 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82e02082-e1bf-40a9-89cf-f16f96d23673 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2687d2a-16db-4f77-9fcd-e016620c1c37 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab6d61b4-f43b-4a1a-ab30-be403588297d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0221de2-e146-422a-acd6-7bcb0ddb07ff phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5af9671f-807c-48e7-b193-feb91d341958 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e4a8c72-d693-4365-a764-e21d82ba5344 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58ea5ccb-ecbf-4cf7-8caa-de93c928365f phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2920f44-a084-47f0-86d8-c36b0d0a3099 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b5a78088-2abe-45bb-9f1c-a1621c39098a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83e1f66c-f01e-4216-a070-997636e4f9db phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c8694a8-0c39-438d-bcc4-bdc0a365bf9c phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bf0eb637-2f62-45de-b51d-9f3160807ee9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a4ee757-da1c-4f33-99d2-892289553b32 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:786d352a-300d-4ed2-ba6a-141f5a52ddf9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:340a0639-5943-4470-82a1-9a34b2a6cfd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb082073-1e9d-4649-be27-ace565b57875 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dbbd1aac-a188-4509-bb0f-eb8e8d43c078 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ece93bc-d4dc-4979-8fb2-0c8bf5f8b4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:426c09db-60e8-4532-82cc-e03e16603875 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fc19d4b-4016-4709-8220-8ee43232ef2a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ae34155-7db9-420d-a93d-6072ce9a7013 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3803efa-bf1a-468b-84ec-3370f6084bb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ca14dab-dd5d-4b90-8671-660d4cadbd4b phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9478987-9936-49ff-a727-5564f1b698c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:764e6b4f-e4b3-447a-952c-5de2c2eea33d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccbbe265-7750-4665-ae27-2210d6af0c2e phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:397e3c15-6c1b-4ba3-8ea2-4af8083f6e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:558feec5-2f4d-4c14-ba70-2b363d082338 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2838d984-a474-4ce4-9889-6c3a7a38d713 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:658d57b3-f99a-47ff-bddf-ad813e38ece8 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cab7cb7-ffef-408b-98d5-4585f59b0e72 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca33565e-f908-4fcc-aad8-a3bf6675fe7a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:91c15da5-4b16-4b1a-b419-d0bf3d8f16d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc53951c-775a-44fe-bbb0-8c02aa8b1ea2 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6af51dd0-8d48-43df-9cf2-00bc320f3284 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c3d76a4-0337-4852-af1e-7f418d4d05bf phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81bc4646-caac-452d-b13e-62c26644b052 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df5f868b-0a93-4642-b8ad-568dad9c7beb phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47db3b63-3fb4-4aa6-a048-aafa53f25961 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f3b588f-1609-4d44-bbc0-39b7fe8fd766 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a7fa9f8-4883-4128-b887-0b6d4ca752ed phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f83ebf9-296e-4837-a02c-7598176d95db phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17214dac-8d98-468b-bc5d-10ecd1084c2e phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0421b665-5da4-43da-b790-eb0f71371fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ceee9ece-1355-4950-a5e0-68556ec214c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:875020f8-fad5-47ec-9308-db00c6238ecd phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c194f028-3d1a-4042-82ea-a6cd2e9b693b phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0aa2752-bbaa-402b-9a17-dc1003d480e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:172fc656-cb15-4c60-8a3a-2455893718ab phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce498285-beb0-4db0-8943-7e3fc2de4115 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fe69196-ee17-4c1e-b171-f4cf67f64122 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a48d2110-7565-4d4f-8e90-a083b94337f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02ba3229-d217-4a74-9bbc-77bc2350c3ae phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9a016f0-c1ab-46b9-b355-19ad68b4aeb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e182998-3fcb-404d-813a-60878aea741d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d03001ec-761c-4f61-af14-1eeab8df7184 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:503156eb-d06e-4ad5-9008-9754616af8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0762a48a-16de-4b6c-8984-e1bac98eceeb phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d092ce14-7a1a-46eb-b01c-93f22b68e33d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a56195d3-130d-49e0-a036-50184dce2efa phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d2f042cc-dff1-435b-9a2c-63e6f8c82d1b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b889a06-39e0-42c9-a99b-d8aa1ebfd86f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acebf760-a91a-405a-9946-4afec8fe5f51 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6b9aba99-c48c-4a7a-b0a4-5c43123594cd phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef283e93-b075-4d4b-8f3e-63ba2e51f65d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2d41292d-7449-47a3-966e-8156a5d80300 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:974dcac1-b105-47cc-b628-e576bd7cfe9f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8f062dc-409a-4ae0-a917-32d360104834 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4e03116-f273-4a00-b598-c6dded006173 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ecb602-7526-4419-af1d-005dada75880 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ae5d439-0514-4860-bf53-ab1e2d864e11 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:468bf477-6f79-4f54-a602-4c6a216728bb phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2abc28d7-132a-4360-86ba-a290911f6d9a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89d55c88-eb80-4138-b03a-6398205ef352 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:127d828a-969f-4868-8872-cf46a5fed88c phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1feba6b5-eac4-4ba8-8614-e7fec25a3fd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86cc58e0-8da5-4a7a-8273-ced623ebc94a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3f305fc-f46b-4760-8c8f-81eef779bd31 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d83a37e8-b526-4570-9b42-0fd1ab64f2f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97e30600-c226-4aab-98cd-ba45cf575a85 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe54a9b0-85d2-4ac1-aa7c-281a11a0de46 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95081e8b-6409-4621-95bd-d2a838dd85a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48994e4c-8f7f-4b5c-8503-4bcaa9bd30a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71262513-aa3f-4168-9233-cb146a16f87f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:703ab81d-ac60-4692-ac02-f7257f6f2fc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32aa2984-d36e-466e-ba02-5812983559fc phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc093bf6-a69d-4ff5-a623-75fda9216b03 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4012ce83-038e-42c4-a33a-d27ab3463f86 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d7e5df4-3499-4845-bc3e-e1d3d6c9dbac phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c78dd956-ccf5-4efc-aa85-9d485f7313ba phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dad4a2f-959a-4b31-803e-a23903b7c5da phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4bb2491-66d8-4481-ac01-7682861ca72a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1e72bf3-3bee-4150-8bb8-6daa62053368 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f380774-0fb8-40bd-ae70-f5edbe47685c phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f12e6c5e-2632-49a9-b218-f807c0052890 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c27eb18a-941a-4d3a-981b-6c78470cdb07 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9e9f2fb-1934-43de-9897-5c8a0f8b4d4b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81d1a671-90cc-410b-b619-9648ecdeba62 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1e65190-e188-4c44-b596-af7e5fc78238 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48683cd4-7f3a-4b3c-892d-d73b0895edf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71569d4b-3343-43d9-8fba-c1bfd747cf0f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:364ae37b-d334-442b-8c02-b1b3117b6d84 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f232db8c-fa1c-4c49-a840-87e0407e699b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c04504e-d832-4dad-9a71-3eadbf9e501b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c302d68-4388-4554-9e65-58ca15c63c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6a26bfe-350b-43e9-a114-a79597c680df phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a646fc5d-1169-4939-8e9b-fa0f6339ad7a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e180a9f3-886b-4640-8f28-bb51c903be35 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8dad46b4-8746-4de4-ac04-8f8b5cad7f40 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6b4fa5-53ac-466a-a18c-114f87854f49 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:927a99da-2c20-40e2-923e-38edda0ce630 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cf4f141-bca7-4f0f-a7d2-f121210ea4b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a6471c9-1ae9-4309-8bca-c2e45543b8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38d7ca49-140e-4dfc-93b3-ada56d73f612 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d520c2e0-7057-410b-83d7-38e45b33de4d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fd64740-4483-4da1-b8e4-ca3bffd260b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77d71f44-a19f-4870-ac11-cc9f3cc5db2d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:469ea734-5919-4316-bf5f-58510e20aef3 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3040b816-d3ef-4ad4-beb1-4e512c6d1128 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a320b6ac-5717-42d1-90f2-e86602905759 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e969d2-0c10-410b-8578-3ef484a30b61 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa8e6ca-d559-4c6e-adfb-d50f837c5647 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18866a78-74a6-44a8-a21f-45171d23a755 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8933905f-0979-4cad-a911-da2bf631d541 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea422de-57ec-4d95-9b8d-57ec4ecdd433 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a389ae5-9170-4872-b1da-c93b37570d3e phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8805d1a4-5fdf-435f-9cd4-2e5d50ada599 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6d21036-083b-4381-beff-a878a87edb7f phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc7fa8dc-7f87-45ab-b96c-12889b564f88 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:92e7977d-16f4-47df-977b-60ec31a32b02 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bdeb742f-005f-4213-b953-f406a71236b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ed840569-4300-455f-8e8a-b0af46a6bc46 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bf54623-ae70-4452-aad3-674b67535e27 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e8da634b-874b-45d3-a911-b5b48570e651 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d16b367-0182-444d-bea2-9aff460e9827 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f0e0ef6-7323-4821-9942-a64f675b5342 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a9760081-4fa9-47b3-87b8-02ad1fee5be0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b46f4dc8-9995-407d-9a97-3a850d2f04e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a7e1385-dfb5-44ac-b124-ad63087019df phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ff6d09-50d9-423b-9686-ba8522e5d036 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36f1fe7f-f13c-453b-9dc9-9e9efecbea92 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e45fff84-9339-4811-9432-4ec314deaaaa phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b2fa62f6-bc50-470d-bc83-34b704382644 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04fe9a00-61a4-4978-b8c9-1e7677f8b63a phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c763e573-4623-4b07-a0a3-ef9c4347592d phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4d8e2d4-86b4-41ae-a430-6932d5c2e8d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c024da41-54ec-40b4-9abc-4375a6afd2c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cbcde1bf-39f4-4331-b00d-f2622cf530e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aeb6bc75-d43f-4222-a9be-bb819097715f phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6cebfdab-a97a-46fb-b25f-b2340c93c3b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:578b55b5-fc70-4bf5-a3d3-051cdbb7dc27 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e25f8aee-ad28-46ca-ae75-2a47e9f09558 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5374c29d-348b-4e26-8f6a-9ccc1470e44d phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:23896482-2326-47bb-9f14-0647977b155e phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc270f0b-e7aa-4cbe-98b0-c0114d3e5b06 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:994adaba-109b-4638-b231-21c2967ba040 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7861cec0-eb37-4d4c-be21-ee33786648f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32b716eb-1d37-4d54-a34d-69a1d62d0a39 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edc9a5b2-3f5f-4da0-9bd4-76dfa7aaae95 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7115de9-46d9-4321-8183-238005d7d6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6544f98-3efa-4c1d-aa78-114a7ba69e36 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b18b418-1229-4c7d-a11a-ad4f0e7198f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88358ba3-0206-4c82-bb89-031cd960a4aa phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca70f3a2-c803-432f-bd82-3f0e643d9289 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:545960fa-5053-4cae-93ae-3201612b54bf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec5b0260-c488-4ac1-bc13-f379619d0552 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8443ee1d-b8ba-4a9c-b1eb-4385c45a5993 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f824bc7-9d3a-4d82-9286-90ea094bedec phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6a2ba78-2269-48f0-b9e7-1dab55d5f750 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:715b8e38-76f2-4359-9c1f-25f2f71b378a phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90bb744a-9b63-40f0-bdee-a9ed4bc828cf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1527ea1d-9cee-4f46-91e8-a0e22e970461 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c571df18-3987-45a0-b9aa-798a3aa3cdaf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16c1450e-0bd0-487e-98f9-c078b2dfbdb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85db4d01-4acd-49f8-a06c-3f255f855cab phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c4f6732-8ab5-4aa7-b3da-9efb8ca8b0b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a292ca8-9781-4076-9fa7-f295dad300cd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a02451f1-5cbe-480f-9266-a821bece40c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90170d90-1a94-4d0a-9889-8e90c000be42 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cb92a9f-9494-466e-ac09-e9725566f1ad phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6ed40d-0a03-4cef-9051-3c9bf7715891 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec57542a-fe27-44b7-8679-55fa323a138b phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11844154-5614-4a07-bcf6-5c511d088c81 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53438594-fcd3-4913-b1af-b96fc986b6d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9b5362d-aa64-4cfb-bd4a-3829e3d314f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c503e3d-6db5-4de5-a483-6342d1ecaebd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24c6dab1-4ba3-4349-9bef-366124490115 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3770fe2-0efe-4da2-b023-481f847a9abd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:607b4d34-e201-48ed-80fc-fc973a873360 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4ca109a0-c95d-4b23-ab26-28a6ae659e1b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2fb42d29-78d2-47b6-a620-a2047d5a0bcf phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a54e127-439b-4c37-abd4-57c0e67235af phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59963f14-7ec3-46aa-8b0a-90c3d0f62e1d phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd52cf47-7118-4eb8-92b6-125d2c66c214 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ff846f3-3a3f-451e-a5fd-20db6fe3d845 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:584a3178-b70d-4c2c-ba2a-bb52392c543c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6343252-c34b-45d9-8e76-951f6d95d8b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f4b9540-0f09-4421-aaff-ddaf1ed65765 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04e20dfe-a69d-4aee-8bc4-af028dafb320 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb0ccae9-633d-45c7-b7d2-b6467aa3d600 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76910537-89a7-42a3-bc1d-c27cb14af38b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b6d47b8-9feb-4ab0-b249-a7a3490006f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41f8ef4a-aaa5-49af-96aa-bf141feac8cf phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34064b0f-ca90-4045-81ff-8f0e9bb1b99a phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2e845ae-dc8b-41eb-9182-d02996deff20 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96bfe81b-107a-4293-b57b-cc336f08f9d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ec4d25e-ce46-49f4-969a-350d7ba8d368 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2cc62d0a-1039-49f2-aeef-166fb5093984 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4560333a-4965-4f69-85f7-4edb280e910c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fac38eaa-259c-4f23-9879-252a90898e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f089bf5c-9acf-47c3-985f-012b8d884a4b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a74cbebf-d105-4463-b996-14e6503e7d05 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e7277ee-f863-49a9-a2cc-c994abb6768d phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1aa9d718-973e-4894-9852-c0441ffad032 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f4f622-c936-4736-9bf2-0f3b8d46edd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c489f88-1102-49f4-bbf8-684e5d3df2fa phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5396658c-5964-4c4d-9058-d32f22362783 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb744c09-fbcd-4530-acb2-b2beb2016a04 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ba2e38-d703-439e-bc01-e1c86d56e656 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cea60901-a0b9-4f8f-a4e1-50067b86ecf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fcbac25-920d-48eb-9760-7dbff167e225 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55ff3539-60b4-4f0e-b16d-abc07738805c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ef27c7f-0849-4c1a-9db5-d193e8b26a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:deb8d044-a8ee-4e79-8424-6b17800c81f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e71e13a6-6ed7-45e8-b638-ae4b9f78f574 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5164ac85-e753-4cb9-98b9-f3502f932dd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cab19c8-465d-474e-b570-1e02c9ff2b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92142178-9dd1-4f1b-bc7e-fb75b6178669 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba717a8d-cee6-4646-94bb-e8e362f9d743 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98a91281-1480-4c53-9def-0dfe3d15acc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a7bd52f-14a6-4874-9c95-c0c7243ecdeb phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bece8436-8fa3-4fbb-a35a-1eb6c33fc639 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7972106-fd88-4fd5-9b44-3a5a52d5fd8c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fb911b1-e974-4e81-a2c6-4a7e9bd1e593 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53561386-5555-4547-a6f6-9e2686b7345a phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66b91637-eee6-4b0b-95e2-dc5e285b9180 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16bbbb7b-2fcf-4f51-a581-1ef0e70077ab phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02f5d50a-bbc7-430c-9b6c-b1ad5d453ae0 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad383b49-fa5d-4e37-8945-3feedf596912 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92db4518-dccf-48a5-bfd6-f5a0cd285a1b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c25e3341-2560-4f06-87fd-a0236b26e780 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e4e6a88-a9cf-4244-9aa8-3ed797161e0f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c104cb61-ac16-4f84-8d97-d32e886be7b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bff774f-cd47-4109-b40e-aa09af2fd63b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f9562c5d-f050-423f-9866-e6462ea289d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:867764ef-7423-4954-8750-aa7dfc9d735f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ceed7f2-4263-4ada-946a-c300b5e9cc19 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0da873ea-3d09-4854-8cb5-9cd9cfc52039 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff782037-0425-448d-99f5-98887e51e29f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7c2765-166d-4417-b3fa-a84d0444b739 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a812f72a-d74e-40e8-9792-563fa1765986 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51d6fc35-363d-4180-97d0-f7ececfd5c31 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2810a79-cf6d-4805-a430-62defade768f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d45b660-125a-404e-b51f-8c84f966a062 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0c2ff071-3faa-46e5-b4d3-ff0ac6fe0798 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6817882-55c4-4e7c-b4d0-59b4dd55e6a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e6033bc7-b292-4bf2-8f6d-31b18fabe30f phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3fdba0a-5d96-440f-ac26-48419a97d488 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c531bb7c-5a99-4c71-97c3-163b77d35bbb phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:482e5731-e08d-468e-9417-f8132c8b1713 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a127fba8-3548-4001-81ce-d5146cf8e0b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc473aa3-fcac-4f0e-baaa-a5e6ee95049e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61e33164-b0db-4596-a116-f32ed350fc11 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3d3b286-94b6-4ce9-978a-257bb1e04b07 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:291f86f2-f9cf-4a2c-a2f3-1ff08e5f4e03 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:baa52b01-2280-4371-8849-c8a57e379bed phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a83d5a4-0575-4611-acbf-6f24eb42322b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8946e530-5d65-4f6c-8409-ce88968f372b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ab0d00e-6f36-4ebe-9613-fbaad0479197 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02e79da8-e1a6-40c1-aeba-b61cfc2cef7c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c6ae583e-2a7e-4e92-af9c-01f4fba37925 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6ac6afd-0f8d-4d9c-8788-ab2013020d15 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5b0724b-95e6-49fe-95f2-394fc779efcf phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb25f29-5ef2-424b-ac2b-7bb4875ea241 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:164765f8-f434-43ba-9426-3864980cee48 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c1a58dd-4306-40ad-8808-562bf3d3715e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ab0150-a7a0-4cbf-93d4-a79275d0b1a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4d58382-d7cd-4dab-ada1-fd244c0fd498 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c630eb8f-ec8e-46e0-a12b-b55872da994c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2f3312-5571-4883-920c-6fd574d9f9d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f23aa87-3a9b-46b0-8228-e2724a26e74c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06cb9a38-75fb-4426-9496-bbb24cfe8ed1 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b327b8a-f3c0-4671-af11-560545c780a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:660bfd9d-3496-4d7c-9a5f-775d6a391f71 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45bc7330-9d6a-440a-96b0-a2136559380b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eacdc80-b494-4dd9-bee8-d36fb5dcb51b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60b79ced-a5d1-4292-a059-3c1fcfcec345 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16085158-755c-4742-b2d9-ddb224718633 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8828547b-72b4-401f-8cc0-379fe5eeb7ff phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34e055cf-c7cd-4e1d-b215-e0cb955a0d3d phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da33add1-081d-469b-989d-18497351e733 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cfe0164-fb56-48af-8454-8dc21c6ca75e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7e6a05d-63c4-43a4-930e-da725bd5a546 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60832d95-3e79-43c3-8f0c-36975a52b1a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39ddd373-064e-4435-b2b7-fbd8aa0f570d phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ede1a82a-e0c9-4452-a8e2-a51a8e7eb3a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34505e21-172c-409e-96f3-8f7761498cca phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1f49d0f-f8a4-4498-9b98-f8a1a8016ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ad6d71d-ad85-4b9f-bac5-b416d35e39ea phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1581595a-ff3f-486f-a9c5-63929b79d199 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d096a17-8ed2-4bad-827e-a3ea64306f9a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4aef039-9ad1-4c20-9b59-aff7fa3b7d9f phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:865db513-2ca0-44e6-b471-59072ea83b33 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74a6d763-7402-4184-ab47-3710ef799395 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17c7cc2e-9a91-4701-92bc-1b8d450170dd phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fe2e2f9-b500-4971-b2c6-1044c425f5ca phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43fcfa15-5ab9-465f-860c-8f1b8405586c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6992b8e-9536-4fc7-a73d-84056a69a04a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71cc2b3f-eecf-469f-8c17-b79439245a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d545779-18cd-4b92-9d61-1e02b42aa58a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a491c00-20bf-4b15-b92f-ff6f943578e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c0701f0-3698-45cf-bdb4-d1279a0d9397 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a36a09ff-39d2-4e2f-a581-482763478f02 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ba600da-ef30-4162-85e3-f57676f38471 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:981156ce-bfa5-4331-95f3-a01d81c364af phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5491c2c4-3aa0-4b9c-8b0f-795fe95db45b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f01109d-ff42-4953-99b1-68465259c135 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc52c1ab-fbe4-42de-976f-26ac7a31f8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8c8044f6-057c-4f45-a3e3-24d2f035bb7d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c3862b8-5cfe-4eb5-893e-d1339ba9cea2 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7448a54d-510e-4bc7-85d9-953da780ba0d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eabe1cbb-e276-41da-82a8-ebcb1190e59a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:edc62dd8-d92a-4aca-92fe-4ad3b00c6889 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a975941-84db-425e-9180-a04dd318967d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1411bb82-cc63-40e4-bb59-f85a0b46bc8d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cbf80722-6f61-467b-954c-a1c68299c263 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1f4a69c-c99f-43ea-9f55-5eb2b394ffd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da038db5-17b7-45ce-906c-61196f3f888c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4741aa52-162b-4633-97f5-87ef48c3d6e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b4c9764c-f997-409d-9086-e3e819d9fd10 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51e47659-21e3-4da4-9253-1a7b2495f00e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ef3a1de-9b5a-409e-9883-522c114219a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c7d60e7-2d28-4307-b0c2-892333f0a56a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:64549765-f714-45b3-aed9-3372095c0817 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:448df14a-7cff-4a92-9676-b676182066dc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2d858cf7-ef57-4fe7-b0da-7f18dc181d81 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb4c1c4f-a5a8-48e0-bca0-7ccd23cf2713 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34f9b3b9-c5a3-4493-8e6b-f360aaebbde7 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89d3aea4-017a-466e-bcdb-50bc981b70bc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4caadc8c-da7d-4533-9d2a-2046cc152054 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:614a11ac-cc90-4a60-90cc-fbb7f27d6033 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5113607b-03b7-4bcf-a649-ae8e5a7799fa phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:995c8e40-ed6a-4dbf-82ec-34e0f53ed2dc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13e17975-0e89-4e9f-a6ce-4cda40769212 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a8ebd56-9389-47a4-9f59-511eb531266a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:596b2fe4-6395-4620-b971-41713e38b866 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1c92169-5e48-4b71-9464-b834f095e84c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16bb6dde-8abc-490d-bda0-48b4b3a57b9c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a2c5d7b-e20a-49d4-bc55-441f224b4d4c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:829c4caa-43a7-4169-9831-f6ae136fe723 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:621fe1b9-f161-4c14-a2a4-7955b7eeebf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063d7e7f-fd9e-4d36-bd11-b8646dd076a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:712d9365-21dd-419e-8f0e-c023b95e5cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c64e24e-6535-40e7-b43f-8e6c8d359d61 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c758f7a-ec35-414f-89f6-350226e1a2d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:069dffe2-bfdc-444a-a4f7-f6eacee4cad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05c48981-8dc6-411a-90f1-834121024b18 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1220c70-e367-4acb-bacb-ceec86b95125 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32d5d20d-a2ad-4b89-a58a-055e1de66b6e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4008602-3595-4c0f-9a02-adfad4391e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58364228-d7ab-4a23-a502-04c629eca4d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b979fb0-14c3-4490-bef4-af35598b25c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3567dd3f-041d-448e-9b4e-79e207b48fd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10be78a5-5d7c-4ad3-aece-d066411011ae phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03c23cd7-cb58-4ba6-87e0-c61d40236100 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbd9b957-5d1f-448e-94a0-e9818a9df4c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5ec7c21-e30c-4cdf-a5ff-273913aaac6c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a21b937b-4003-44eb-bbda-873bb3c1ec13 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0726554-4833-4e23-8db2-994f988c665a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70eff7c7-1da7-4303-bfe8-5b8b806d4473 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d795b235-a4d9-468f-b149-84c1694e742a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64ff5cac-b062-4f18-817c-660b52dc413d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd2ea300-d366-4c44-89c1-6e8a301845ef phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cd48333-03bf-4c8f-84f2-4a8088acff34 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23e3364d-b682-4d5f-a5d1-dfac23a64f0c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:529f0082-999f-4268-afc9-4b1b7e08506e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53e0f91b-27ae-4283-b7b2-86582fc3525a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df8b47b9-92e3-4e6a-af5a-a6cf84af9613 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba1a54d5-6215-430d-8ff8-e8d4e9e2db6e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1cb5a6e-84d1-4e96-9a4a-940a84e3f8f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b36962fd-717f-4d16-b5ea-8979552a9c57 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c8f84e6-7add-4384-9404-c1b179f9e1d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a9dcfd9e-2bbb-4d39-96ae-f5f5b77ae007 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4b67c7c-9f0e-4b8c-9ce6-9855d02a1422 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89c4c2ea-c773-4845-a424-f75cae84e4e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40f0f42e-84dd-4c44-8a9d-4a6f50e58887 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3d2552d-609b-4351-adea-00464a8c0fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4dba5f0-b583-4003-adff-9ad2db9cef72 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de2edafb-a6e4-497c-8211-55ae2864ea4d phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1c1c494-83ca-474a-b17b-fdae11a33eae phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e43faada-c4e7-4d84-81f2-e3616eaa8fc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53595dc3-37ed-4992-a4f0-d2c64d3a67c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e331dc2f-3d2c-42f0-b1b9-b8d25e67aa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8fa8f91b-e1c4-4c86-bfe2-c4f40c9bc63c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de763f8e-aa89-4737-bac9-cb8547dcd478 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43b6fee6-4de5-4857-86b4-e0c7e0e2f96e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae79300a-d326-474c-a102-9ce9e71925e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bcae2ef-b46d-479c-a9c3-80de97f4f21f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4fd9643-af28-4957-8088-677ef2d2fcc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adcc4dcd-fb95-4686-98ea-ae1699f8211f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3a57ff3-8887-4521-bd4e-5da7fc6a88f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c7842bc-69ae-49f8-b2c7-5c9869a5e8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e86f7c3f-0157-40ee-b322-447a5dfc8d1a phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:954d76a4-ae50-4418-a984-82515b482e75 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f34560c5-a959-4a60-b6f6-d5d4acbfff46 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e99e39b-5ee1-4849-a428-3401a0451d0f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e57054f-6724-42c4-9f04-24ae795b0310 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f226dde2-dce1-4848-b9a6-2954815bca91 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0421ee5-59c3-42b3-b4e4-7418c8db4192 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e838bc80-93ce-4c56-a485-90ecdc509368 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90ce704a-3a6b-4ea7-a68b-9623a06cf3d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0956c210-255b-46c4-b57d-b76ef45a61c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bba4348-3044-4c72-8988-5de2e00db856 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78fbf062-e38e-44f3-9dd0-dceaffada7a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5894e675-245e-4b42-9372-aeb2eb272a66 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa553c9a-220f-4cde-aa3d-08ea8f19ae1e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b092470f-3f09-45a6-9ecd-5bac3cf8d2d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:028bf7c6-6ad9-4baa-a104-a0a11af3e40f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0646fc43-3e77-46a7-ad67-c117cc0c61c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee858287-b99b-4159-a3ea-622d1139c56f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec116a69-9740-4c9d-97db-effa3e402457 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42680d8a-f299-4eb2-a934-c0393b15b12e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:361c4e98-a6de-4d0f-ba90-d6524e061da8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5b11444-5305-421c-a033-a1f398998a82 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61861626-c1c9-4ed8-aa19-310d3f0dc76c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48c5d509-e035-45a2-bf0d-59c9d188660b phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc8e91ff-cca1-4399-9005-0c352e09b33a phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da6478a6-c50a-448e-9326-39e25546d9da phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e2c8554-599d-4959-bd54-5e523569616c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:935b6e5f-ff6f-406b-b6a9-bf8e9a82110b phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ab67de9-2a0a-4e70-b842-ed03f0f09550 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dd487c9-6772-4184-9d82-42c733f56520 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11cbdcd3-b4f8-421f-a10c-b80727033f7e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2331318-cced-4d51-bde2-6521bfaafe89 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8db4c18-70cd-405d-b1de-feec6c0bf683 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f9573ff3-ab84-4b9c-b6d3-f168dfbc5e94 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e2edc07-216c-42b2-a2a2-38e023b3dc56 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb82f4f9-fe71-4ed3-af00-60cc713ce751 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8119697a-0eda-4378-b3a7-9dd1ba48914f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d14d21aa-b64a-4596-ac35-db7e3ca94d28 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fe42ef1-f549-4b28-b9ae-a1f343660ec9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:417ca4d4-720f-4842-a6cb-f702b7d66bd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28bacd47-d7a0-4e77-98cf-a437f19a7f5d phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eede3d9-0922-4751-8fa6-f0062b18ee14 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fff06f42-2cd2-4d79-90c8-4b78ddbd7e15 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:116252c5-ae0f-4f01-ac31-b681bba51048 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36722d17-2e7d-405d-8d8e-813a2e8e2ce4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:917db7a4-7dea-4019-8389-99a83cd14d33 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e44574e-1d0a-4150-8d97-1b390cc898be phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a344d461-eb79-48f7-beca-65831ae00643 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61f61bdb-9933-466e-803f-a64380433416 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca3b03d-7573-462e-abc0-9f03e6d46c58 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9a1bf0f-8674-4255-bd56-2e5a34bbe5fd phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e1790bd-7075-405e-9235-9cba7eb24c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72fe7119-faff-46e5-8b05-89aca1b3c1f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04a90a1d-01b8-496f-83e8-b2018d8d55ca phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03aef981-cae0-4b1f-826a-3d09e9c4b775 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c897dcd1-f4a5-4998-b293-b993e4f8539e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e936882-e1cc-401a-a8b0-bc822020f1e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59d052d7-77a9-43cd-a0b7-cd0e699d1e75 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0d69ccad-ac6e-41c9-a191-20136b6e382d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e72cc079-66ca-4546-8f51-fc937c15f8d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d0fe22e-d6af-4e46-a7f9-d0858cee89f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5909c74-f365-4707-b0fe-5768fb33aa66 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2075420b-071b-47fb-847c-d4588068e298 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e816044-8654-448a-9237-8aed798f9306 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f633a3b7-f233-423f-b93f-0a9ff3a683a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74573205-349a-4fa0-b248-938dbd454828 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a9601bc0-566b-4096-972e-24b5a23412c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fba6e3b4-b34d-4bc6-8219-185316d9ab16 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07225dca-6cf3-40a0-a7c0-1574bcefa3bb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c06257f-42d0-40b6-a8ad-16fcf2f16264 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03740b14-7da7-4e8b-9631-0c5c694d2e91 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f1a6caa-7381-4b77-97e8-a3d85ed59df3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13587deb-74e1-4ad6-9353-d56899679c66 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aaac127f-2e97-402e-a78e-85f01bdf11a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8c6ea85-5a7e-4dbc-865d-04b7fd343628 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:812a1dac-bb2a-4c94-88ec-b0079d112492 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2edfd275-0c3c-407e-ae0c-cabe252fb65d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dea77dcb-08e7-4d37-882d-11a7e61c6af0 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58628f07-f108-4a52-9df0-cdc1b3c339e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23c68a7d-c235-427b-abdb-0c386fe96aff phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10266d73-2e5a-40a9-955c-d4bd2c6378e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0dfce2f0-b625-4352-b7e8-e4c267235362 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f2a294b-23ce-4700-bc38-09081f80c4d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a5e1755-84b6-4bbd-b9f3-983556c63dcb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:deeeb111-ad5d-4b0d-83d1-cbe232ec1451 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f9a3061-8dd2-4252-9486-764e9ac13c3d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a1afb56-8c30-4687-8bba-060b7c3bf2f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bb5ef2d-c942-4cf4-8d36-08738224345e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:49d6a72d-5e60-4e03-9790-38133551e356 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:668acfde-c227-4af0-857f-634cd454110e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54befa75-c39d-4b47-9561-613c73d0a2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d6f8488-a666-4dac-b458-7232144e5cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e76b7eb-2be4-4fd7-b407-cc79d6306317 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2b061ba-8679-4f5b-822b-71870ce8c907 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37e94f73-a846-4e77-b868-ee025c0f160c phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d8727e8-5a12-44b9-8205-068926ccb36e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:756b7f05-aeec-4cd8-b15e-b7e7d3da2e04 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0ce7040-f5b3-4018-ab7b-fa0286a4f19e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8188818-4a7d-4c5e-a9f6-d814794d5f1a phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34467968-89ed-44a5-87cb-33c4f063b642 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7e0507e-2aab-4936-9172-2736ac29b5fa phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6897054c-af4a-45e7-baa9-68231b2a9376 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfd99d03-94ec-4a1d-8bf2-e78ed1213c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:859e88ee-4d66-4947-8625-6197a5d798fb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb2594b1-51eb-4df9-942e-3146d70b471e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce2fa1ec-38cf-4232-9ca6-29e837a43be5 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b354e4b0-5e85-4bde-9137-f244e33231f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:968c37eb-d85b-4844-80e0-f578feb345e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea42ec2-b96b-428e-aa5b-68d359c18173 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec535fe7-aa2f-45d8-897c-958a3810a939 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0b7ad142-edb3-48d7-b050-b4e9d3e8b735 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc5d5c6c-1d64-4157-af1f-853d3565aa1e phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:981ceb9c-2c11-4e25-a118-83472664a4b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74da53cd-f72f-404c-9985-b21d51b637c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4be77494-d938-4c6a-b895-6a179a90af7d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a261c38-feda-4db8-bd58-d810d207e22b phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f36e78d7-75a2-43ff-9847-85a3b23c3831 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:212ffebf-77f0-4e0b-8c54-f7a35bbd4fff phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:80dde44d-2fb8-4d56-ab92-b52943a7aba6 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:32cf6428-246c-40e5-a8d5-c60bd920c3de phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1709072c-101a-433c-bec9-de5045de6e32 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ee5107c-6b6f-4862-8cf8-1689d69716dc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5fa721be-58e8-4a47-9e8d-9a7fe3635e95 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8f6dbb8-ee5f-4428-91cf-d96810ab750d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f48cd58f-9aa7-4031-ae8f-2d3b9d16aecc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24bb3239-6905-4e0d-a6ed-af9c2ef78aa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee42ba4d-3c39-4f01-b961-bd7c27336f63 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bf60208-36f9-4d98-8d5b-ff0213a22cc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eccad39-3b18-451e-96dc-d341254cea25 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05cf02c5-46e8-428f-8ec5-93c8a16bdfd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bbc4a0d-c53b-47f6-9a53-40828f6de679 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96f6f505-ef8d-4536-a261-564c0f3eac72 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cba94f62-6964-4ac9-8b51-b03d91ef26d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e9a1b8-0241-46b8-9c86-f2cb65cab8a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d93d5078-fee3-4e25-9159-1f3fa9cb6bc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:841159ad-6442-4270-97ab-e9320c7feb1c phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:688324bd-e6d7-42a8-9222-9bf24df861da phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1593bb84-9412-4877-b3e0-925e65ac5498 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c279b62-67f3-4c9c-a1f3-f42cdfb72162 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d621f98b-7e08-428d-b2d3-945977b514a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e289d693-eb0a-48fe-8360-9f2d0720a94a phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3af4051e-c4cb-4625-afaa-1484ec498b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63f9b76f-de71-4f7e-93e4-054d23f0192f phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e0d3bb8-f36f-40f9-b362-4304bbccf598 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c98866bd-a354-49d7-9c1e-a67494ca070a phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a927610a-ebe4-4bb0-b8e5-8172896c6464 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ebd4218-e779-4fdb-85a6-d7e954346abe phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fe8bc4f-291f-4acd-8417-4a9c0e3011fc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b68bf1a-c40a-4c54-84a0-4d147ffbf494 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70274a76-bfe8-425e-9ec9-9e67076135e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cad7da0c-db03-4a9a-b27c-d12bf578b72b phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95f233e7-7b8a-4504-a198-a4ab4b5aefaa phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b2895c9-29a5-4deb-909d-050bbd35ca8e phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30f7b224-6f8a-42c4-9d75-271a361a432d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dddc1f7c-3952-481f-a755-b3a9bad70629 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:891faeec-90de-4812-a870-986147dbce34 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbc1a39e-6a13-4af8-a994-b1f0ec3e2b08 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f664fd0-f389-4087-a907-f08986d90d84 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c53943a-d3c9-469c-82f2-8c814b7efa75 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baff6d18-3ce8-465b-9678-2c040af48094 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47b97385-97f5-4fca-820b-30623fe31654 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d288134a-7a7d-412d-9fb7-e08de7f9e713 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f417f18-f92b-4ea9-a4e2-5f15409703ea phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37453ee3-9627-4915-b8a4-ab2a184927d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9162b9da-4f69-48b5-99f9-b540a568fea5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2738877e-e2cd-4d85-886f-fb7944119aa8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9343da5-2915-4490-b0de-ed3a644bd501 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bbddca1-ca72-4948-a94d-d74ddc070616 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11304f1b-e3f3-49ad-9d0e-c637231f1f88 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93b943a4-aac7-4cb4-8ccf-d4f2aac9e33f phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9721a162-7d86-4059-af94-563b613e400d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f91bd8ce-3a86-4a7c-a1a0-9666a12bcc45 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:964f436e-2ba7-4b87-99da-ba4e4d5ef9f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3855b65c-1d82-4c26-8c67-60c61aec6e26 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5052be59-4911-4a41-a75b-cf4e8ec306fb phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ea18ff80-3fc5-46bc-90b3-297589901357 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47d18aad-f362-49fb-bb4f-9624e917a57d phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09cb4c63-5acd-4daf-a9e1-a453639759ae phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e6f95a7-5185-483b-b547-ec13131893b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:592456e0-113c-4493-bccf-3bb9f158d0df phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83b602bd-222e-435c-a853-e1a0f7998531 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57211d22-883e-46d2-aece-76105b9d75c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e49694a-1cd3-4fed-b32d-d9c3530a01f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc3832c8-e6d7-43de-aaea-208368153d66 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a908d671-91a7-45b4-a6f6-0d1339c009bc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a2f6647-dca0-4612-8e9b-0a503651d705 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:42745463-d095-4f0b-891a-d39850d53d25 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31bebed8-0209-4c1e-9ea8-7c9378b30c21 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:065f9cf6-cb59-4135-8998-33aed679d5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4f3919e-f439-4ec7-8340-6cc41fd33fc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78b3d095-853f-4ec1-ac40-920d9d1d0afc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ec607b7-00a4-45f2-9b8a-ddb63607aa90 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5e5dac4-3550-4ed3-b030-e56be899c1c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dca7ab16-cf9b-453b-9177-22fcccac93df phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c056f80-99a7-4767-8294-6098b28e947c phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1393c87e-0c85-407f-8fda-4e0c232b93e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e8931e4-29b3-4a3f-ae2c-f0e116e2f176 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70a318a5-cbde-43f1-b08f-68408762bb59 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a2d1880-749b-40a1-ad0a-03968330d89f phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:985b5fb3-fe9a-4ae6-accc-dbcaf0dc1fc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3d1e19d-ab0b-4d4d-9e32-0bbf4790cc8e phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66efc7f8-92d8-4297-82c2-2e1e06129fd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f181be4-7789-4038-83df-5bb64bb72029 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd6f47b8-fea7-4604-92e3-2e7c4d915e72 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:797d903c-2422-4a07-a7c4-362253cdf9cc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05bcbe27-3405-45eb-9926-fab969aedf3a phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f49ca821-7b88-4031-a42a-950927ff8afe phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85782552-8b6e-4f36-b0f4-3b5ebe10aeee phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72118644-90e6-47de-aa24-3c8da0c04309 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c69f1b59-8869-4273-9e2e-020f0c8c2819 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:721b07fa-138c-4fc4-bfa4-759d2eb133b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab4d57a8-8485-4e47-bc80-67ed47bbb2f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4693e7c-85dc-4d18-8f9a-5813e8fe2339 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89e2a3d6-c7f7-41bd-a259-9134262cabed phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e784336a-526f-420a-94d6-3132497d0364 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7084b39a-c80e-4a81-83d3-717b675a8549 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b100c798-e236-4158-a461-aa365414f908 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:380b48be-4340-4746-a489-a8d28830b3d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f98fe7-d007-4c01-b3bb-14eab02c20b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:344ae5ea-a3e7-40c2-a121-6464fc87aa4e phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df0f4bdc-20ef-4ab6-9aa8-df3331dbe033 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394b645a-bf59-4e70-b693-54ac21a68a09 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81b5b9a1-e70d-4c45-bd77-c99b1ed8d926 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95fe9b48-ce16-4e67-897e-e7500aca3f42 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:224e25b1-49b5-46e6-ba46-26d0d27899d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1e95a84-29f3-430d-9271-016df5f99ea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:280817be-e5e9-4b7c-9008-ce70ae6d0009 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50f0656b-578b-485b-a002-d2c693c59b60 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2e2f469-66e9-4800-a4c9-79b7f5f9ed87 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57ce19d2-71e5-4f1e-b7b0-90adf8aacb5d phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063944b3-ab32-4c6b-9194-f3c7caa84c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:173c8e14-93b0-40f8-b3db-11a3626956d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee18fc1b-000a-4047-b276-98d8de4ebdfd phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8acd2ff7-560a-4729-999c-4a2ff59a09d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ff70de2-c954-4db6-83c0-5519ef959e68 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45b80ec6-9037-463e-856a-54c78af16c1b phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6864d015-cc89-4305-b6f3-d1ff9c8df332 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a261686-0b1c-48f5-b10c-f982b497ebdc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b153c32-0f2c-473b-b15b-4b13bb120cd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9fb3b28-7470-4d4f-bf24-2759aee88374 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:9895ba69-c705-4add-909a-f24018c445c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ed1728b0-6ecd-42f3-bf88-f3b84c7e7fd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:22b5faae-d166-4b2a-8d5c-d28616efb0cc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:408fc1a9-7a86-4448-9384-dbdb3c024e0c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dc7a226-b035-4114-a1f6-ce3596fd9220 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a80ad44-ba30-42b5-80c4-2f533a6e169d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54204316-4d85-4f2a-b94d-e49a79b26e57 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:605aa7c1-e79c-4d07-b813-f3d6b26d9c43 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5d2868d-419d-4e20-9814-1775eaddeeda phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8b61bf3-48eb-46ce-9660-ec840d87ff5d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ccbcede-f6d2-403f-ae39-38151cb2f3cc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:660b00ac-51a6-4825-9b9d-29cb92a9a6c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5940dd7f-c443-4c2b-b709-36d280200e31 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0bc0f418-ca99-482e-89a8-c866711c7abc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a2cbee4-6635-4fc6-9823-717f33d0e31e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cc25481-f3ce-413d-af59-a55532dd2f80 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a94f599-2292-4dde-8ca7-306692413ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1226aab8-2a45-416a-9b31-f52190e5adf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82d66a0d-aaad-42ef-b170-b16512f63c97 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cc6fd95-c7e2-47c7-862a-793197f2c0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2b5bed0-67d5-4ba0-ad66-6440255693c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97b964e7-dbe6-4410-9f65-5ffbbda5f36c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e53b2155-88f7-4323-bff7-09976e335204 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5667529-80c3-446e-823d-639705b3fd23 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2cdbf6b-c901-4c8a-be66-1b7f3e0d3f53 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71c68491-6017-4eee-8792-57fdc74f844c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c8b912c-4038-4843-81eb-ab755d82b535 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46133854-6d22-442b-87be-5d45db6ac110 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e01dd18-3d01-4301-8f28-dfae2d7b0836 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c083553-c0c8-4b37-afc6-94f7af3cca64 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90160b37-7281-429d-b920-cda63bdf8505 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c8bf26-980f-417f-aeb1-700aa7949071 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b6b5773-4974-4618-8a67-df9b4d02642b phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd1e8d35-b9b5-4117-a5f9-8d03931143ef phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9c22e86-4434-4f97-a5d7-9e979126cff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f4a4959-9d19-4181-9ecb-cc47a09e521d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3130f9a-d726-4d94-8003-9e58e39e9efe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97c249cc-856d-4536-85d2-dc660c53e9d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:990b1318-900f-495c-a6b4-f6a724a7b9e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f4faf8f-f144-4990-b621-2b60264bed67 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7c4c5f7-2266-4412-895e-e1c767a55058 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbc2210e-98c3-48ed-9758-6f400d629d80 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67f8ff87-378f-427c-82a6-7888fd0d6fbe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282ee40a-ef64-4d72-b295-96ad65e61a81 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b83f7a5c-1082-4235-a193-e05e8ff5cc5a phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f21c77c-075a-42f8-ad6c-a6fd83413c28 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:879a9ff6-6dcc-4097-b03a-c9cf2b192392 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4280caa1-666e-4648-8912-5269c7adbe66 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7787f4cf-4df6-438d-90a5-f67405573ecd phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39695cab-8cad-4177-b6c2-a17921d3b35a phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c581ebf6-abd4-46ec-9d57-da47a55e8c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baeacea2-5938-4e3a-b6a6-3839785bddbe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6139e38d-d1bb-4eb9-8d60-d0f7f14b41cb phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ffca39a-1dd8-494e-85f6-f93cec51035b phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19bdeca9-76b5-45e1-9b34-4ff6d7046251 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d36ec482-ab1a-4698-b8d9-a5b3b4c09de1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fd91920-e030-4fb6-9c3b-a749b667ff2e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d48a5928-01b7-4234-b64c-75e42551b60e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b738ed3c-7463-4400-ba93-8021276e1b85 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fdeb3ba-5322-4e6f-95f2-a5622ac64665 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:566cfecd-b740-4284-8902-312b5a0c2019 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16aabcfe-239d-4e83-9705-eac0327b52e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0d7a628-a549-4482-9fd8-709de0b4e0b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1195192b-ca71-4c37-813d-cbb73a4c716c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:988ba870-9ab3-4fc4-8291-e532ba22e5d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:45a1bfdf-9e8d-49c4-9b6d-f440091e3bee phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d847fcf-6b8c-44b8-8ca7-65e8a97e9ec9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3143ce96-22fe-4224-b1f8-6005e10d112f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65ea36ce-6752-46e4-81fe-3c74d9476daf phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da58a573-7a79-411f-9743-8d43936f1433 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d381f0a-01e0-4422-aefd-d7b915c99210 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d0ecb9f-d00e-4b8a-849f-9454503f1472 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12096fa8-c591-4781-ad85-90d4cb870e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:283e5913-8b5f-4e3d-a462-31a526025196 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c16e270e-252a-452c-81b6-9dea32a4b30f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d517ddc-7626-4759-9bb6-f623ca0ed444 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4cc9e64e-31a0-472c-a140-3c23b2d22c22 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9015b625-a9b4-4b4c-95f6-ce324f60ebd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:792922e8-1e29-41f3-9911-6e31f0e1e611 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5164a8a-f785-4bb1-84e7-b2173a911f3f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f88e280-0095-4e65-b91e-b9eec240ccfb phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba2b07c5-b4cc-4dc0-918d-c06b441fba80 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57ce6d28-3a59-425c-b42b-04ec5960eb72 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:673c78b7-0b5c-4165-8f6a-178b8197e6af phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f0152f3-dfd8-4926-991f-c26a8d169f7c phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:df93c47e-6515-4be3-9295-b2bd88770eef phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeac3d8f-8312-4a82-84e0-6281d8ded23b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c793a9f6-2a49-4ed2-9b2d-89f5701b19ce phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfc64d82-23f6-4eb2-b002-611e9dde79b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83185dd6-3a0b-463c-8c60-6204961c9bec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08dbcca6-4230-42d7-8877-3d3da2dfe0e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ef8ba9-0df8-4747-9fa7-884400935194 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72c13d12-a489-403b-8420-cbda71354694 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3be68611-997c-4c52-8ac9-21c99926ed7b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d0be2fa-c465-4bd8-a8aa-26490c3a46e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2191687e-57a0-4f45-969a-87af9dba13a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f2c40cb-3a53-4bbd-a961-853172528622 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d56390b6-9d59-4d0b-a8c8-93695d9e30fc phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a16b7e4-3914-4bdb-bffe-e75740720947 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd6c828f-6af4-41f6-a571-84671ed8f0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063ee589-f0fa-477c-9833-e7c181afe8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a204bb0-3c85-4fa2-bd10-f07308a00c47 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd1dd4eb-60b7-432a-a488-092456ac36ec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af984fbc-8637-4e6d-9127-575865cc8271 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54d5b01a-1b14-4551-abab-81e168deb1da phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adebc110-5875-4381-8a93-abf48d2196d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26425f3e-f682-458d-b4d2-8b58e89efc16 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:045a6b7d-9d3c-4f09-99ac-bce1320b6582 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05834cb0-37cd-451e-8c1e-72afc53ef3f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2239266-ddd1-423a-8d1c-2cc8cfbba14d phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ce2e2c-dfc8-4963-ba23-575d45a25a46 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:238f8b76-a300-4c09-b05c-217020131aec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63995ae7-d5f0-4c18-babe-5ef1ca72746d phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc301dd2-28e6-4c42-9abf-7409a3c98e74 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa36b373-a217-4c93-8922-ee726914f2cc phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fc5b117-6565-42ac-b309-a740a6818d5f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce2f0ddf-d2c3-4906-96df-e89e483207f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:805707a5-9a49-4b79-af40-3aa8db198191 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e8497fb-4268-4555-b354-ef9832a985b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ecb3094-5fd9-4535-9b0a-1d088a31dc76 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7654232-ffe0-4c7f-a474-c10877a2d9d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e881f884-aee5-4805-b86b-8cc06bba1988 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fffb688-d27a-4ee6-99d8-dfbb8c92c015 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a65379f-d4e0-4a31-8440-3dbfb8c0528b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ceb80a4-b015-4760-b971-eb8b16a4d388 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5c3a5e8-7e15-42e7-8543-71d22b0e1d21 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f3331f7-912f-4b19-bf1a-e5280eb8f4b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a6ce3a9-262e-464e-bcf8-bcdea7001131 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dac15e0b-474c-4e27-84e6-d227c7769219 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:075837a0-1b3a-4d6d-abb2-844d3273fbd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a356441c-e0d4-4eaf-b378-c0fe2a286b24 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d84bfc3f-f04f-446c-85ff-4b997e361352 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:efcea65a-ebe9-4b0a-b8dd-0ef5a430ec30 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47932b61-8112-4b1b-87ba-f91dd4807b77 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:66316154-57b8-4c2b-a959-96745bb70052 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:66ac2fb8-a587-4af0-9c3b-9c7b6f613f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e74fb9ae-b13a-4445-a069-4de1c0d7966e phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9711c0a7-dc32-4b56-be83-bccad0f0593b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a15d784e-6e2c-4be9-8a1d-344c81af2463 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:365ee06d-1ae5-4883-a3a4-d31fedb2eaf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7daefb6b-02a6-4792-acba-cdcc229d5975 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aaa433a5-b5e9-4f3e-a2d0-bd9e5622b498 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72ab1c34-c510-4ba9-8317-d443b4758a0c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:307f6b36-c735-437b-9956-ecac46c6e598 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77811cbb-9562-4371-9963-e8c8deab5892 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6e36314f-54b9-4215-897f-d798567d5726 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29bff483-ad99-4694-9a1b-64c8b3062283 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf5d1428-b3ba-4552-92ad-e4567516388b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a86482a-c5ee-48e2-84ac-3e1f20fbb4a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd97e82f-a567-417d-8d00-36bc421e0d0a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07b480ba-8fb2-4cd4-b417-31b2f4aaf806 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1481720-bdae-482d-8db4-c0304efa8d43 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6de3ae81-ed11-4668-8a48-a44e07578143 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6a07d79c-9a47-481f-9bcf-5c3b34e8f54e phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32250ec9-3c2f-4ac1-acf4-746f4a1f1478 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c931bd5f-6158-4ac2-bbfa-783456028986 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab9e1c87-d80f-4843-96d4-88e4a33c9fed phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:566b6101-df04-48a6-851c-3c1942b5383f phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b80d12ec-2dac-4e7f-a3f7-fc16b8d2bb5b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db3d2b78-97f0-4aa7-996f-9654a1c9018c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bacb39d5-f466-4e42-8979-392c30976df5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bbccfa0-44be-4c83-9142-385706847046 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22f05632-2878-4dae-97f1-8f83520baac2 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:203cc9e4-4894-4a16-b6e1-3aa518653e16 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52873de0-ac1b-4ee1-b123-cc75dbfb8e2c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1237060-867b-4577-9c55-928ca3feb373 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5faf3d5d-0142-4660-a415-de2e1061b3ad phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cb2941f-51d8-48cd-8714-101d0f44125a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47525e05-a121-4b26-a137-0509e816da69 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbda31b7-cee7-4aa8-9b45-3b85c0bbed29 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fa999fc-6096-4494-9317-e4438fd8b344 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d47ed67-7dc9-4589-9915-29338aa1618f phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d5e2a39-22d6-4231-8d42-5a6fc1698e45 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:774ab150-aa4b-46f3-ad57-c4585e825c48 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57589d70-e3df-473a-b244-3417994a717a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:290b0b95-6ecb-46b3-b7df-ed14c7c4a43d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b1376b5-fb04-45f5-b378-83ffca5e7ce9 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d640e43c-76da-40e0-ad18-665c0e30ac71 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c88991e-ea3b-4f99-8aa1-0cef8ebe4a90 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c245215-cabc-4f0d-a466-2a72eace0157 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bc236f9-2e9a-49c1-ab29-369880a09160 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4842d5f8-4694-4803-9af8-f2f597483420 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87f6879d-0069-4b51-a58b-bfc15de38a80 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b042f97-0c80-45a7-8499-623a99836b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0dad56f-0e35-4a65-913d-c6c607e89697 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e974356-c8a6-4b51-ae07-0d85540d3b21 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:209141ba-005c-4acd-9efc-d8f9e4c1cde9 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c8fb6ea-5c3b-46a4-b8e6-118d2190469d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:195f1d60-12b6-46c9-bdd4-6d3b053b0c44 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29cd67cd-38f5-406e-bb40-08da0d41e115 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54db406c-b26a-4910-ad71-2983dcc71530 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2db22a9-c279-4705-9511-f356873ebeb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:092367a5-f214-49c4-9abd-e46f2df12627 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfc01ab4-dc65-406c-9a8d-b60fb8635fe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff4f65e0-c526-45d3-867c-f56aca76148d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8e0a6899-6e89-4f69-9e65-637c29e76e10 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:85d9409d-6208-4a3f-ad94-d3cae51ce1f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f785c56b-f3f5-4cbd-8404-724f8dcf2051 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:98cfcef3-1f6d-4160-8d97-62ea21432ec8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a53a9a6c-e1b7-4a52-989c-2002dcbde23c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a29103b-bd82-47c4-a85c-ff36c1617ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:62d664d5-7bcf-423d-8bed-d6194f2ea2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14d68f09-8fb8-4158-bab6-66082a416b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:06d4e833-e115-4ffc-861d-f88c9e28cbab phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4b65209-6da7-4bdd-ab93-87e7972d3a48 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6de8ddcc-9951-469c-8266-39236cfb5bc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2589696-6d54-4e27-8750-67672b16ba71 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f22b6716-3cfa-4756-b4be-0ca734718dcf phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb04f21e-915c-41f0-9503-4d4d7417304e phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fbddb66-7400-41c1-ab03-6c7bd5b9ac73 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a99a72d-e287-4bce-b80e-9ef522e119a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c7ab1709-ff47-429e-890b-d3ad34bfd470 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:262c6cca-e1b7-4f4d-8a87-2c93937d5fd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b133dd87-4780-41f5-9add-087650e7fb66 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fbaaddb2-19fe-4f08-a384-f498b4acf506 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7896c0a-1ba8-403c-82f7-02265e2c9fd2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4bbcc89-92d8-46c4-a00f-a2d0f65d54f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f158d75d-614b-45aa-b7e0-2d1180d7edb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2b9919e-130b-4cf5-9fab-77c07cf54b23 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:237c5a4f-5487-4821-8eb4-26ac1c91abce phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0444acd-1460-4aa8-a9c9-7c2d62a408e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a44a1fa-a36d-4c94-b8fa-d01bbd84d1b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfe2652f-995e-4f30-a97f-5b392eea8316 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69a57458-7d3d-457a-88cc-15d40783d9e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58016653-617b-4ee5-8637-226485c82c7d phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:602a85b3-535d-4054-971c-c36123e03799 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4db52ba2-65ce-4895-9750-6e43ff62fbdc phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bd82ef1-e89b-4011-94cc-0a137316ce80 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f21daf-f227-4748-b2c5-9411a9d19cb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d94bbc3a-52d5-4ee1-86f1-e1ec87d656d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:322940ab-ca96-4b9a-91cf-9699992523a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc5b01f5-e154-4f39-beff-e44bda2c6346 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf070912-01a4-41ce-a34c-0fdc48965f1e phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee9fa61a-ccec-4349-b3a7-7b9203f823c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ca690ae-c9e5-4e74-bc25-89b9e900608b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afba248e-1e51-4174-bd5d-ef45e31845dc phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4d455e4-b310-4c8d-bd08-c0fc1bc27b0b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7be96a32-a6d4-4f4f-9318-7a2297195407 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85cf9be3-0ca2-47de-8ad1-0578dd2cdeae phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d06da7e8-9d57-491d-a372-4f767e4a94b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6aa7b036-9f9a-4756-90bc-9e977bf9904c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eabf267e-b0c3-4e63-badb-c80482fec7e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62d50a83-7e52-4258-9b32-5146d1707e6f phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:446c6e14-f7b1-493a-8add-192b05a3c1a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ec0d6f-a40c-4ce3-888e-0ac077f7ae47 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c63a1e4-819a-45c2-8405-31240d05cdc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a5151ad-557a-416d-8fb8-b8b434e96ed2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecbc1bf5-e80b-44fa-92a2-adf7ab20d24b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6eedd22-3053-4ed6-bcaf-18d5652e9448 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:048b1b17-d436-4149-9fc9-1842b54956f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc3b1b6b-2c35-4546-af4c-b369455d3e45 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd2a21e4-d43c-4d78-8083-a1e050c39dcf phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:521510f9-0145-4383-ae3f-80536a841fa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d84460a-1ee2-41e5-81ac-8550c557b972 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2231de93-ec0b-435f-bf03-b940d47c6106 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9483b10e-2eb9-4558-a6d7-86b6ab1e2f42 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c9c0e78-dd19-4f30-b000-100abdd649f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0cb676ed-555a-47d6-a43e-02e4ec6afd5c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d6736c2-5e61-423f-b22c-06560cb64d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5418074-c386-4369-af7f-a1032925d807 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:38a57f5c-85b8-4437-a6a9-7e32df60b368 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:249325f8-c516-4a52-98c8-45676ffa3adc phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8b503ab-88a8-47ab-bf95-2f25f40d3b5f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c1352ce8-9a24-4e3d-b70c-6e20f91af7fa phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:804f61e0-310c-4f3b-bb8d-05db41a26db6 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f2fe469-6a4f-409d-a80a-b4e871ec769b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:822ffbbf-e143-47ea-bc8e-22f705aac924 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:534880d6-3032-4bb1-a308-6e865bd47bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:966b25b7-39b6-4c85-a653-43ca113e78f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3e9f582-1844-4663-aadf-856acb4b370f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:582a24e4-774a-49d2-8a65-2cc9bdc7316c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c95e8130-7074-43be-ad55-8fde145e353b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:743d837c-1328-4a04-86df-1160cf31a166 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8accaf9f-084c-4557-a14b-a0833be55836 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d35812a-d5cc-4654-b655-560f5bfd77f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a7ab3a0b-4f83-40e6-89b2-56e35377f3d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:247385de-82c9-41e8-a81e-c91f9b7f409a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cdb1032-e55e-4474-881f-c5f827349789 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e82cc7c-3d9c-4fb8-bbbb-1a119ddee59d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c207b2ea-9153-49dd-ab03-86fed9d7379a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05ad9c6d-f535-4e66-8d56-97b5f9105114 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19eef12c-ed06-4c0d-a524-9b214d0af5a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47acc1fb-cec1-4d28-a617-12346551fdf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26ec48f9-5f4b-4121-ba79-69ad069f2010 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a49040bd-d1d7-491f-ad5d-3fd9165d2b7d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e795650-a47e-4cc5-b425-1e362deb9522 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44541346-41ba-4b78-8406-ca5dcfad1f7c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282581e6-ce33-478a-9102-042ccbe8db43 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51ee5822-19f6-4379-9b42-3f0df2baa72a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92015c78-a438-497e-a81b-cdb062862a6e phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d4ddc69-3361-4638-8340-fd90a21c21e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f816940-26ae-470b-af0f-357e173933df phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efcb8596-2ec3-4855-8d19-b6adc8ef6337 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19b34f44-31a3-4d5c-91a1-82ae63c2419a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc464a7d-9f5a-411e-a441-4727f461a882 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5389c572-51a2-4832-ad84-a420eaccc164 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9db0c89a-75d3-4834-915e-5b879eafbbf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3640882-0438-4731-bb73-11b28fa85858 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7591db9f-3d3c-46d0-b261-59ec16610387 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:604dad74-6d26-4ef7-a8a3-8c28204e310f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfc4361d-8def-49ea-bb4e-a0acf126f320 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78443f0b-48da-453f-8ded-907c0551bdfb phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15d79075-53d7-4aa9-b1e2-5336284c5053 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6b37ca1-5ea7-4bdc-b549-a53b65e371bf phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4812e6df-b650-48cc-b1b4-52b3a826379b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96ac931c-ec9e-4836-8054-331003373e3b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8efd622f-68a9-4ef9-afce-4b7b17eb7518 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf98319-061c-4013-bf04-28454c11ab9f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0629c812-c08e-45c5-976b-fc6b6c5000b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24ca9269-c1c2-48cf-b189-8ce6e3c21d75 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f593ab8e-f72a-41ab-bab4-b2fd0e01aeb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01b77658-9694-4380-883a-dd6975cb17b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:258d91f3-7bbb-4162-b45b-ded2cc7f710c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44c30e96-4fad-4034-8046-b539c6e9bd11 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f50bdb53-99bf-4354-aa5f-c9f24d4b2d6d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea711bf-a399-475f-9854-5b82decb744a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b597c277-b069-43d9-ad07-ed3df9cfd7e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21d8d547-40df-4a9b-9915-bbf950e5621c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35e31db4-f1f5-4575-a7e9-297ced1faac1 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f925e8dc-9295-47c9-91a2-2bff77003cbc phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c17ef72-88c7-42ab-a823-3d1e0ec67617 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdf7bfd5-74fc-4f76-9a79-3e3a4f49660f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99e8f355-030c-49e0-95e3-da1f56037b08 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c3c745a-df77-4049-83e9-8fe3a0ae76ec phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ea8f3418-6942-49ba-ae46-b8e9505db65f phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4d5ca457-0d4c-4842-81c1-b63c7d5cc8ab phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:defa5807-19ae-4125-9d1f-5e82d354b3a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:971b85b1-e838-49f2-965e-1c1dbe936f21 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee38b5a2-c29d-484d-861a-0dad0f7ec04f phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d31913ba-9779-4ddc-a3c5-d7bd99ddeb16 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e075a083-c86f-4aa8-92b0-fb85e320f51a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:80eaa4a4-f89d-4e39-a2f5-be3435a66dc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c03070b-9f86-4732-adbb-45ac24f20d0c phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76d87cce-cb9a-4ac0-aa5b-fef029f0a0f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4f080b51-2f12-4c33-9a15-3999f3fb2293 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:79a90dc2-6e24-4cf7-9366-e475739df2b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd625721-ed84-4d71-a5d0-69d6bf23b02d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dea46ec7-813d-40c3-9080-5f33741c21e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51d077bc-cdad-4047-9039-fd40c1a2b616 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:457796ad-ec77-4b45-90f7-b58422283118 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5665649-456d-4541-b195-d4ee72f067bf phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4777b48-d8a0-483a-b654-46c20f3d12b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:69559807-bc59-4265-acdc-db1a89a1b3c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f44e80fe-d3a1-4b1b-8c06-38d94accc649 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60dce6ee-d9a9-4fa3-9219-820e9023adf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01619e2-df43-4e72-80af-d2a0b64b2c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0988b1e5-bbe3-4c0d-bd1a-2d22ae51df80 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abc10126-d4e6-4fb6-9786-7197bd77692a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c791cf8f-57ed-4a65-87c7-e0f58764a7f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bf8ec9f-794e-480e-821f-2c1c2e04ebb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f6e42df-3bd3-483e-8904-edd35ec59756 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de73112e-ba7f-433f-8b2a-05015c68baf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6c66183-185c-497f-9747-ba59101aa2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:151180be-f2ca-4606-8025-cc445735f29a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b598749b-f09a-45ba-b6ee-99fec74c7418 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5f8be10-e6db-46f8-977f-5598f79a04f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a2d7d6e-88c4-4842-91a1-9d354f41392b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dab685d5-8430-43b0-b7fb-4b9aa9cd7628 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9394670c-b6e4-4257-9a39-81465a596996 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0eee3b04-6699-47d8-981c-7a9604a2e62d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ced789f-ebdf-49e7-a814-1c4cfae197c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cf96239-6d71-42c3-93d0-60c2aa7a0a5d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:805e8110-79c7-479e-b4ec-44e2bbef255b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a6b7169-8e4e-4c1a-8377-f62d5294dc83 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb03fb49-8e15-4971-b4b5-7cefe98ff040 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f594161-1b21-4723-87e2-ddb3c10d5645 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faaa2288-b296-40d1-8432-6ab09ce49be6 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1fda2a-41ac-4fda-b998-491e6f11bbb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0edc858-f2b3-4b7b-ad1c-1b71cbf7eb65 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6a08f4f-3e46-4dc0-a8d5-200bad46f25c phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a79e35cd-f4c4-43a6-a45a-78c9c2638487 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e867e742-ecb7-471b-b310-f8b4fbc79e0a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31a5c15f-7615-4506-b7ad-542b2cf10829 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81741f6b-a672-42ae-8f7a-56d4b2fe7392 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71681804-2f7e-4f45-bb67-7748629bd768 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09efb9c3-7df2-466b-8c71-3825a8c57e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:169216c8-a211-44e5-ac35-e2e7378958f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e3604ec-5c5d-452f-a2af-3463bca30ff4 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002d6a49-1684-4141-8104-d4bec0e6c34b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c46315b5-e15a-4b48-858c-17b71f46490a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9faa55c0-53be-4b33-81a6-14893898cf5d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:321571a3-385e-4a13-9405-9543f63b1317 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd31591e-921e-441a-a1b0-c01bb48b983e phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e39230fd-ebce-4f5d-8731-a20ac0bd3a08 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acad56a2-3d59-46ab-b125-4cf7bcd3f904 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8c283c4-ff29-42a5-81f7-f1c5806aa728 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86379e17-a549-413e-850e-e46ef95e2698 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b11d674d-c3a5-4306-9d42-6db63794b2eb phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:955dae11-c4b0-4753-8973-06244b250649 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:08f08cba-bd5e-4c7f-bc08-34583399df75 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4419b468-8cc1-4847-b003-7a8ddda5b1bb phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4eee1280-d809-49cd-80ce-f7c2a0fbf5bb phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:45cc429e-e81e-46e0-8692-76ad9336f6e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d739d1a-7c7b-4a65-a8c9-24e2f84acfa3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83135c76-60f9-475a-84e2-39c6406b00d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fcb422f6-1f9d-4a76-bad2-b3859872f125 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca7ac849-c3f2-4dca-bb7e-c7dbff5cf018 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:84f8aa04-0043-42d1-bf2e-a27277ff1203 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a7b6655-9876-44b8-bfc1-04e0dab17efa phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b8469ee7-3849-4526-8fea-876f22bdbad8 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0df6865-a348-4a59-bc3d-d8ab65b46e18 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d806e41d-487d-453c-bf29-dc2f9828e8f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6127bb02-5df6-4c59-a6b7-f2680aae308c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34851411-1488-405a-9cba-5b3907f28152 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2fd406a4-b4d8-4bfe-a28f-da786f7318c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:109d700b-6d5b-4b78-8074-ce4509e144d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad2eed4d-449c-4165-9ce6-e5ee9cd67e1a phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d8c5dec2-e8dd-40ad-86b8-74d426453607 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4ce0a607-4b8f-4139-9f71-45c02ad367b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aa54438-d50f-423e-a378-a7b2fb7c312c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bbe1127-9e2b-4ca2-af60-5f5a75de86ea phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f60d5be1-bfc5-4eba-b270-2ce63805b448 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b03cbbbe-ba2e-4af0-80cc-3df4650c96b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b674a9ae-95f7-431d-b192-e7d13df2b64b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23946211-1a5e-4223-bf1d-b8f109c3b931 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:520f970b-a091-4844-b171-e88d14f8f0b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7642a44-98cc-4f6c-a765-b47b8a4d4504 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdbac9b9-f8bc-4440-beb6-e04a27f9218b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6277f1df-4462-4800-a15d-c71dd30a90b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f89ac4f7-36d4-42fe-a049-6b79e5fdcb99 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8ab1cf8-9fda-4b11-9ec2-23bb59d83228 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:844683d8-541b-4bbc-8a83-773dae1150e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:980e6221-e530-4d6a-9b18-a72e6fe909e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dad17a95-6463-487e-aaeb-5d95566a6df4 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c797df7-07e8-4348-a3c2-56bc42059cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:582d626a-4bcc-4741-850d-941def581b3f phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:844f35ac-0daf-4c38-90b8-9a424c5ccc71 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0843e6dd-4bc6-426c-9567-65d140e3e605 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf4094e0-173a-4059-b859-e10c9f5a867b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:292a2349-ea2a-47d6-a0e2-5a005dcdd8db phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28192e07-da6c-403f-be7c-43364dbf4e23 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bd85eae-e6c8-44ef-9702-be66a40e923a phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a0aa120-326e-4b4d-b92c-5528199aeefd phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40b0f2c4-7b8a-431c-a419-c50075d371e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58dd910e-beb9-4435-922c-fb0e6a1c2534 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2608c17c-b212-415a-8c22-d2b989477588 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e4e566f-bf68-4cf5-b5ac-7e4311202246 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc792128-93bc-44e0-b2d8-735929f07240 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:203d70ae-e56e-4bbe-9127-eabacb195e57 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c2ca813-d628-4dbb-afee-86deca3fe555 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e99e943-0af1-4597-a8e4-33b33b869e02 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:156d6117-9968-46af-b16f-f753454b7bf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d1c280c-254f-48bb-8d8b-65e056b4001b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de871c6f-dd9d-48b0-b713-b4418f28488d phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a17cca24-0beb-4ef7-86a5-ef7cd3239d6c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:605a4066-d91a-4925-a6ad-461e2c6b2881 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f774a06-a5fe-46f6-8ff9-311aad01aaa4 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f88176c4-a6cf-40bf-a612-055a7dfb2aa6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9f75e79-867d-4af6-a8b7-21f589866e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abfbf514-22de-4e1e-932d-1ffcb2dd4f01 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:088b968d-6e4a-45d9-a97b-6fc996f83a41 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2102cece-1fb4-4042-ab20-fd919ce8b1a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdfac456-a537-4398-9777-a0951a16d10b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5199340c-30f1-42a7-9495-63135afbb2d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dbc0062-a4ab-4510-a1a7-2a7e4b14cbaf phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a992142-dd87-46b6-bbdb-9b68a6145607 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4b2ee61-3780-4b72-9882-d12c643eef27 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:003991ea-e583-4c9d-b980-6b738205e7fc phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ead6ed9d-32f5-4ab8-8c23-d180734aa920 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eab71e89-2cbd-4de7-aeae-a57fcda44906 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5b0be8e-3e29-4dd8-805b-7a675eb15922 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4da94f92-eaa1-4b4e-8f2a-8d969f93761d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4f098020-7230-488f-a6b8-97534620fd98 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4de6d779-f1bd-47cc-9181-4571007858e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:92af7968-ac35-4790-b366-ebba49c57552 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39d9862a-a67a-418f-a723-05b63f9c0cca phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:683a0c16-d149-4eeb-bd9f-a012672826db phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:029c594f-9ef0-4ed3-ba0f-6bcc7045deef phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a09e57cb-96d2-4c2d-a82d-111271756141 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c8236ca-f6e8-46b3-8d67-8108528baa21 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83509a38-2970-4a51-9d93-012958b688d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab2025ee-dad3-476a-b72b-17f08cc56c80 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:678d6866-8cb7-4b36-861f-16e9966a9d00 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54295d3d-0785-4cdd-96ae-e756c45056d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a811f73d-f4a0-44bd-967f-9201aad5fa1a phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47eeea2f-419e-468a-8e3c-83974bfb290d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c76a8964-b3c7-43bd-b352-9fef61c51a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b968621-cd78-4896-a63d-15cb9c0c79cb phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8182467-6da7-4c52-93d4-56207d5a02a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:386ecf2e-647d-4a06-a04d-8e7fdde5bdad phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c7337f3-abdf-4ae7-9a74-8118b700810c phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d10a4e96-67dd-4b5e-a7b7-315993958e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43c9567f-4bb4-40b0-92a1-efdd57550eff phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45f8a71d-35f0-4260-b97c-e2312f878354 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e22c79da-2461-47b5-b731-aa3d23263661 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f32c777d-5012-4f08-b232-bf250d71db5e phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80cc297b-f8f8-43bc-b4b1-620ea6430c87 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f76b8ae5-0e0e-45e3-b9e4-4eab82e3ed17 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f79dbb33-285a-4f5f-b911-38cbb8336fca phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d26ea05-0038-47e5-a8b8-360df9e7b3fa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cf76c36-fafa-4d90-bead-086100752fce phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd59ad98-0c02-404b-9954-4fb18befee59 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecff6cd6-6523-42de-8d58-0385da908e65 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30c70083-3169-4bb2-b068-ccdd745c2faa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da945075-74be-4a35-a85f-019bfa25a020 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2ba52c0-3b2a-444f-ac25-29fcdd84670e phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe727d9a-2e44-4f67-9f8a-6551c745f099 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:725a4270-9dd7-4d9c-9579-fa0c92fbebd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b80934f-d954-44f5-a0c1-b98a594fc0af phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f056ef6e-6d37-4e73-9467-59b4c850a3c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ac45175-05a2-4ccc-9065-92b9945dc79d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52742b03-c5c7-4597-9980-8db1431bf30c phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc42f6c0-134f-4e6e-b3eb-9f6e1fb40e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe15364d-9c8d-48e6-948a-fbb8d580906f phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4f9f337-22c8-42d1-986d-8a7e63dfce6d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe3fa3c7-1693-4bd0-8b20-5fa45fcb4972 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a543920-dce1-4964-900e-2333221a8ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e99a89a-d338-4db8-b369-834279a8e635 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c0d306b-a4fa-473a-8f51-b2a6a5643c4b phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfa72924-7a61-45d1-bf03-416fe621c47b phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1644c923-93fc-49af-8025-d35f34f29371 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8da684c-15ba-491c-ba28-a8f202e728d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b84ffce9-ab65-4b96-b256-58b7db1772d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ede7afc9-1937-4c4b-85d1-d60645dea113 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64c8db54-0c3e-48aa-84e0-a2005b2dbd9f phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58547dec-b2e7-4a52-bfa9-5ddd8e950d23 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20c38488-0e6c-4626-998e-43d9542d8daa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeecc4cb-da89-4864-91d5-32085de876ec phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5732a5cc-a5d7-4a03-b41f-58c7c2b32796 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13368443-2eaa-4e47-8039-78d7642a973e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47ce9bae-99c4-4f3c-a59e-e27f21bf54fc phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76184f62-9b5f-4695-84c0-fd8038772082 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31355ce8-881f-4205-a6be-534ef1434cec phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a86bc69-c220-48aa-ad01-314207d5d1f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c7fed5a-98b8-4078-987e-972f0bf7b169 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b253218c-f170-4d37-8f01-f412bdea6e1f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d09e33a4-804a-4c65-909c-bb931b7082c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:429ac663-e7e5-4bf4-a1cd-45d3e8a01470 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b815e386-e6a1-41e5-ab64-6bf0cd85ba41 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fdcda60-73ee-48d1-9dc5-9b6750793dff phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1228c556-1878-44c7-86fd-31fdf67bb11a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e17bbd44-fa79-4277-a310-310041a12da5 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70c94b7c-1524-4902-862e-63829bcdfadd phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6e8cd359-f780-4ea7-9c09-924ae63c5e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5382e246-8e09-4147-b4b0-d6243ccef6c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7febde8c-1513-495c-8188-9cb1d9c49dff phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:798d424a-d480-4ac7-9d9c-33591c1755e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:908c7531-baef-4387-b9d4-1dae15327577 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efbbe5fd-face-43f0-bfc5-eea8a6286880 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaf47445-3294-4585-bf07-0ac684ecddda phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a02f5ae8-c971-4974-9453-8ca39415c133 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:122e1933-773b-4b59-9e8d-1de1fa91fa1e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8515de44-ba22-4f3e-a1e5-5f8d15aaa6da phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36816236-316f-4bfa-89ff-cae46a8afb69 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a199ac1f-4441-4dbb-b9f1-d36a4e9df08e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4945ce8e-2810-4ae6-81f9-719a377c6a23 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25e0288e-cefc-4866-8c11-4f7878e9b107 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:183e0ed5-574e-42d8-9194-36992e5cacd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f9105db-ece3-4e0a-9f55-41aa79070aa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfc17da2-6263-4030-a18e-c9862e26d220 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4909018a-22e7-459e-a819-ba8cb476a37e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bba75e9-45f1-4b42-940f-c00d21d2356b phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f438590c-d860-4bc9-b057-8a5196843625 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f9d7f25-cb01-4fec-9b8c-46ee518d065e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2572ec6d-0c1d-41a5-bf52-28447c44766f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90e47e3a-2377-4d81-9319-9e4f2576220a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8450f059-d3be-45b0-8829-fc77fa8622e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90f1a2af-71a3-4e95-9b02-9d60c5cf3bc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0698024-12d5-4149-b338-22534b4fe556 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec267444-4095-4d9f-af51-922cef91dd83 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f19db589-c1f1-4e4f-8c3e-1e15d633a939 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feb95c77-c43b-4bd3-914b-1e0388be4103 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:501d8a97-404e-4186-b578-949c0cce8246 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4402f1b3-893f-4164-af5a-f04ec51be4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d03648cc-452f-4b6d-873e-7af007d8b6f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c6a7261-cf39-44aa-a7ab-9091f8ff4cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42e2ded2-b3d1-43b6-ae8e-caaaa56c3246 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1308205-0769-45d5-b81c-0c93a97b8dc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47751380-1c4a-4da5-b448-275c2aca7081 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56a1d5f0-1368-4aae-b574-be6c8683dcfe phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cf76ce7-bc14-4fcb-a11e-bea9d2a53329 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb67bc18-908c-4483-a6a1-cf6793445a8c phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18ab2e7f-3b6b-45a6-998a-1eca7fb2e70c phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03f7a6c4-3183-4977-a560-5634d54dabaf phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78a6e49f-75b8-4845-ac80-3e2a787f81c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ec5a75e-42dc-4c48-9f33-94e3fe8dc120 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94052c7d-b9a7-4d2f-aacb-6d2d1e08bffb phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df23fbbe-aa19-4737-bfba-a622ae0d91c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9b1199f-e354-499d-af8a-0ccc47c54d82 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d23ee51c-93ac-4257-b67d-6becdad5a364 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aafa199f-2d72-4ebc-8576-001036394bf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0119802e-fd0a-4daf-abba-d1128f598e3a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0700990-73e5-4221-9058-dd3955516ad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c132bf85-5534-4773-bd36-9bfc98f9d3c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29ff4714-d9d4-43cc-beeb-4c501d32f900 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb373601-c280-4c39-9300-6dc1e689ae2b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aca2e1b0-9870-4139-a883-54c4e9e02e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:46673a56-3853-4368-86b0-46c25443336d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a1e0ec39-1e9e-446d-86e9-81242a252ed4 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e63be801-1641-4da8-a6f2-6618a5295b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ed37a73-7aef-4572-b2b5-9e197046fcfe phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18ce68a6-96a1-4f62-a46c-eac050010bde phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ecdcdbeb-c5de-4160-a83e-569b80790f7b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d1db12df-a4c9-41f2-ab29-a16ec964ebd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12fad32c-86a8-4afb-8068-a9fcfda954cf phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f17684e-c015-4da8-84a0-1f92f2459094 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e84ae9f-cb74-42d5-b6c9-4a76e497be02 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17311187-d451-43c2-b382-1b28150f363f phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f676cb7-cb6f-4341-84f1-75f9818e9d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e69bae6-75f9-4564-9ec3-12928e03d051 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7f3140c-ebb2-4def-aaeb-5f436391649c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54fdc1f3-6b72-4977-9022-7b893aa78b3a phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53d646cf-e4ea-4645-a499-94de8a4e920c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a42691e0-004d-4f81-9995-eb48968a3bd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6de9259-d082-4896-80a4-99be92088e24 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd48cdc-81ba-406b-8a14-4080c056b1d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:396fe0a7-01de-4836-b94b-53aec1ef12ad phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6ffc903-7caa-40e5-99d7-06bea130446b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:548f4c6f-d563-4748-943b-814cfcb1745b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fbe9e51e-b303-4632-bce3-2ea4160f55bd phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0079fb7-812e-4bc6-bc02-03931cb472ca phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de583008-32dc-47ce-bcb8-a006c6f7099d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a98be0f8-4e8a-4d3a-8471-7a3f0811cf9c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56d2b7da-3c65-4c10-b075-f752881cad18 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05d940db-2fec-4068-b2c8-227c22cc1c9e phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f47e8caa-2995-4029-a11d-0372fd167b6a phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1139a18-0b43-40f4-9fd6-e295defb38db phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9f9eabf-f703-4bdc-ab3d-6fce930831c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5453ae3f-3e77-4507-81fd-8d7105281251 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4038fb4e-3ddc-4727-af6c-726fd50b7cf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c86851e-51fd-4f56-96d1-58b4ec4ae84b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7003df3e-8426-4f8c-bde7-1766dc44c6b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58b33e93-e71d-49d5-b85e-55b0b7054a69 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d736c0a6-9632-4114-951d-6c699dfcda38 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffee8397-ad0b-44aa-ba8f-de5f2d844c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:113c4801-b4cb-40e0-b8ed-988cd484ef07 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43a7b032-aaf5-44e8-ad0b-d3f5f4d8007d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb1f6f8d-eab9-4aa2-a3d2-419bd6cff785 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92962f1d-5f43-40c1-91bc-e1c91b92f8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b11f897f-da28-44bc-9d15-7072d684890e phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99cac5a4-6fbf-4a8e-af34-0550d2bf1ad5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92ab8546-6f30-4160-8c44-1693da61586b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f5ae0eb-6604-48b1-b8ba-7268b8b7ec09 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01b7dbb-4fb8-485c-9249-8495bf5b2aae phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:597ed688-2a6f-4c86-aa43-34444d60f20d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45065c5c-88c9-4b24-a5b3-189c7dae1a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0d73a8a-16da-4dfe-ac8a-0a62634f6e2d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:215c1a92-03ae-478d-bbe6-1dbb22166aad phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc91137a-8fcd-4ac2-8dab-e491b4c2c5a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54a695de-ba87-4abb-b641-6f329bec011c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c6bd80f-e495-4627-8b3a-f251b866fee9 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d5d9f4a-2829-4d67-b200-dd6bb9376cdb phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abe9a635-2891-457b-877e-2bfb93621c0c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fd14a61-732a-4e0a-85e2-7c05419e0b0b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8448f1bd-aed4-461b-b6b4-3592d8f0c268 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0ecb82f-d67d-4ac3-a7a2-769ae116e727 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15c643d7-ef5f-4f48-92c3-486ebeb542d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2cbcca-eeb5-4216-aa24-c9c2f9d4be82 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:38c3355b-c4bf-4e28-a271-a7450b2d9d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf6bfce3-ada9-4ace-ab24-12afbfe37344 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fbe5ee7c-a582-4ba0-8310-1f76f7389369 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:022b10cb-dcb5-482d-a665-2a0c5e12de9b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52b320cc-0590-4b82-9ff0-3e6601a3c415 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f7e6c796-958c-4368-a229-a54da3e81a62 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b490479e-fe6a-45e9-bf8a-fc2d553e4433 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab5320e0-f6e2-4958-ab72-06d93693ef08 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1f0a71e-5c4a-40bd-a973-ef0b30a29623 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89530f8c-1371-467d-8dd5-8e950d9adaff phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5ace60ce-3316-48e4-aeff-22f5da645f5e phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f597e63a-46c9-436e-bdc8-c7d21f1f759d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9edb7317-106f-4748-bc58-2f25cd44ca2a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc5fb84f-84f1-452e-ac28-540ae9b10e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b0dfe96-ca96-4e46-a9d2-70255dc04fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e289ad5-7d40-4cbb-b3d7-f427ddcedfd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3599e9b-4f99-407a-a220-974ec6c5c8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1a438c33-f008-479f-b806-7a7095807fda phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00d7ce8b-6d5c-428d-9174-c7f75efa8e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6cbccfe4-1356-470d-ace5-8ce4246284dc phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2116873b-7a8c-4fea-956a-4b2baa20d89a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:562df3a3-4569-4687-a52e-3f0716305487 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9bf7693f-3dbe-4d52-82a3-6e3cda9f7b6b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c3da65a-8f1f-4956-90bb-3f5e09f6d6e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89185af1-18d1-459e-891d-88538bf6b7e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83d62938-9405-40f0-82a5-5ec87c9b9eac phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8407c3de-28ed-4bb3-bfb7-8f48a22bce8f phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be4eb49d-eeda-46ea-a953-eb1ec5f07449 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b402470-46a1-4444-a6c3-ae5ca42682b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dc99d30-afaa-40a1-abc0-be8e5ffe4b41 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb0ec55c-fa5f-4a29-bc2b-b8eaffdde684 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0003b40-8c76-457d-8fe7-5513ba110ce8 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40a80977-2b93-4939-b9eb-949c3d5d522b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bd90d68-6179-437d-b1da-3d664017542d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92985b56-d4fc-4590-a9a4-39fb3972ca01 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:851cd9ec-58a9-4ee2-900d-cf5289b20b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21afe99e-1e34-4eb0-a885-651334fe14c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70a40688-5a20-40fa-9f13-50c19f61034a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:998d2e8e-abf0-46d0-b455-13d873266279 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c216aff9-320c-470d-9142-bb7d5117a45d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d15ce64-6cd0-4c4f-b44d-988bb723dd40 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb35990d-d3d5-40e4-b696-bc6d64e38173 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c5a1933-cd1f-408c-a860-2f3fe54949af phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea8bec44-0d98-4dee-bab4-bf45a570e811 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4115184-5b8c-4215-8cca-e4a4c4a4539a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3f0383f-c487-47e0-b487-7527d6d356af phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:863dc200-1b92-4a22-92cb-9dc5ee812e2e phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08561835-c6a7-4356-b0a0-e5520eb6b9d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd65b10c-77c0-4642-a8d5-57a5d7c52e15 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:714f3d22-9dfe-44b6-aa46-fc0f05697dc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ecb2cd6-26ce-4768-9555-9ff6392e2e24 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df4cc46c-6736-4780-8f05-ffe67e3b054c phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b39bba85-7d60-4b81-9225-b126a4cdb5f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:824539ab-6355-4476-bbcf-d4b2005034de phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:811db1f9-1c2e-4256-8ef1-00c968e25399 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0d4acc7-ed93-4ac8-8893-13b281c6ba87 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d3ff772-4931-422f-acf3-0584e244c433 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59102cc9-969d-4118-8dac-765e0996d162 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5470bb58-e2e1-4da5-9e2c-67057ecfb613 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf3818da-0fdf-4eab-a5d1-80ccef2bafac phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d829f3e-ed08-4801-8232-cb912c2454dc phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:425beebc-0223-4a57-bc8a-2b82e842e7a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f32aa76e-f912-48e2-af97-ecb03f05e050 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07313406-b56f-4005-9471-d3b45c27c1e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d5f7380-a771-4a6e-a027-47554b1a6390 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4282606-4acc-4094-af70-e5de2677cc16 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5428f2f4-1a07-427c-a604-3b9ec3796d56 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a78b0f9-0c36-4084-ab5d-e7a44ca26947 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da4a31a8-dfc5-4790-8830-aa14f6d3f23b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8661439-e3d1-4883-bc60-2b654df50bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4754633d-27e6-471b-933b-1f1d1a2032d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1e7a2afc-6a81-487c-a8eb-7be53d01bd81 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e5fd882-b8b7-43e1-9215-38ce21c432cf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00dfa7bf-8b28-4a08-922e-0524a30ca09c phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eeaa2971-7421-4705-b247-499c76da1acd phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:17c7b773-9702-4292-86a9-46481b1c024f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ac5b331c-3a1f-49d8-a763-22057dc814f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cec696b9-15d5-4e6e-98aa-4c436c887002 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4e46f22-96ea-4151-bee8-7cbb333a396b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:137afc67-de18-4a51-9b12-227c40ad6b0d phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2c3d0713-1346-42bb-99fe-89d5e7b18c26 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dbc4a4f1-9a4a-46c3-ab49-e9bc489e15ba phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e3abaca-25ff-4aa0-bf7c-07f955ed9a95 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a4c43574-96b6-4373-9fc8-46edca7bc0f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:996847ad-65f2-446e-842a-9a80551dd7d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c7eb362-26a4-4c5e-9581-ee2e7c3a8fcf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a89b4600-ee79-4256-bfcb-1c9a35594c9d phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa3c336-927f-4da3-8c7b-3d1cbdf83c41 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9564bfda-bc64-407a-8dd0-51c73b1df697 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba4cf897-43af-4b6c-aa7e-7000215cafbe phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25732de0-f5f0-4167-9f62-dc70cff4add2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2a9de3a-197c-42e0-98e2-e25c7af49ee0 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b448483-6eaf-42e2-9935-c9b3bf302c19 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7563127b-fd17-49a2-aa67-823b1782a29a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe45bdb1-0c20-4044-82d9-44814f181e80 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8f97729-e4a3-4ab4-9609-f12e7625c305 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:772bce57-b6f8-4199-9ce9-021a477ba83f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f65949b3-5e89-41ae-8bb8-391124d834cb phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b8fdec5-8f9b-46d3-84d0-4ba8b6c35723 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:862e7627-2296-4638-9694-7dee6d72da94 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:767ebaa8-8dd1-4766-8979-6895b4c10580 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fa60ab5-9477-4e69-bc60-9ed730e5d9fd phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f900a04b-c8e0-4dd3-b94e-a54b3e723b3b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f31ac416-8d04-4ccc-95ae-7bd5d6141f0f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:996c1c77-e2d1-4e03-9563-91e480fe16b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8289f72a-461b-4178-a103-349f51a51401 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21126e3d-4035-4c55-85d7-9e96ec0c4b32 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d4ab081-0ac3-45c0-89c5-a649c77b6384 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c24624-43d9-4a69-b9e9-97711523f914 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a7e076c-8d22-4100-b1e5-366a9196e0ad phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da9aa95b-e2b0-459d-a082-a4567416f7df phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e7cd4ea-c314-4ebf-93e7-3d3dcdb1a902 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63a2c807-e355-4c2b-b787-c95c74ab3d67 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d737ad14-14bf-41ba-8962-e7e43680aa11 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69f920f8-24ef-4e83-807a-8010964f15f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:212d00be-1c70-45a4-b1c8-264dce0bb5bf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:390eae55-65cf-4bd4-a979-0e11571aa229 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8a11019-198b-4c70-96e2-977d6f391de2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bd031eb-453a-4625-8f65-521ac2fd1448 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75477dba-c339-4340-aa69-2ce1b9eaafe3 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a408b5d-60f4-42fb-888b-11f73c72cff9 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47108a62-fa82-4553-bb4f-81cb81eebd2e phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9640eec-a5a0-4895-90f2-5b0c00a26b2a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ccf2faa-28c6-4f3a-9591-b8796f80cb88 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82d5787f-02d5-44be-a0f0-876dbf0c7a55 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af3b39b5-40f3-45cb-a909-09efa329d70a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7beaa97b-8d50-4ae9-847f-421b89c88cd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4ab0184-2fec-4f9e-8948-d75175051c43 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c89411cf-87ea-4800-bb45-bc6c7690d7ca phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:275a2c34-e609-4dfc-b6f1-f606a1c875b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c867c802-3078-4d78-8e77-013779c5420a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4d6ed5b5-e9a7-4a3d-9fc4-44de396bab82 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:28239884 uuid:abdb0111-fd79-435f-b909-4f6a2d8166db phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:7c5e56e6-f014-4235-a15f-a582cce8fc9b phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:b57eb7a1-79b4-4a70-8a9f-a86aabd85ea5 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:bef7828e-d285-4f4e-aaa9-1c1b7be44027 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:28239884 uuid:9372e732-4c31-48ef-92a1-0677ffd38fd1 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:d1e25eee-f2e1-4322-8fd5-d15a3de6cd17 phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:28239884 uuid:1efc0f8e-03c0-41ce-90ad-55b28f0de949 phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:56f2baa0-0efe-4d77-84de-0abb31398a6a phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:aa1428d1-6bc2-486e-aa52-508d6ae5161f phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:1773023c-e74e-4c6a-a869-8d36415ff00c phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:28239884 uuid:4ebc3b80-da94-46d3-854e-34426253eeaa phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:4bb0b728-4f37-42c6-a746-881ab8cbdbd4 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:28239884 uuid:e82b88ad-e81b-4803-a150-90ca2015b830 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:df28b7c3-c493-4e7f-b8fa-8f24e1823008 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:ea9e5c2a-7980-4c1d-9540-5c6a0e5caf4c phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:1be47338-49c0-49b4-be7d-94756b60d359 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:28239884 uuid:d2f7e48d-2469-4d79-aef8-be9d8e25e536 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:72eac1e8-f457-4992-a94d-ca45b56c3500 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:f06140f0-8dc3-45a9-82a1-1ab605a99fee phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:cb373bac-7822-4c5f-bfa5-d36eb875a19d phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:548ff6ac-f2e0-4871-81d1-bac1395bdad3 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:c0785c05-c9aa-401e-96aa-2d39494c9049 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype 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infores:phenopacket-store PMID:26242992 uuid:a361c0cb-dae6-4641-946f-737730871426 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:7a3be83e-615b-4e7a-9bec-512b444c646d phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:9b446854-a586-42f7-beeb-7fb5ada51a20 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:6101d042-fa2e-418a-b29d-1f659be7b0a7 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:46f27a77-b4a3-418d-b617-b9c97695446e 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phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:8f9dbe4e-d5d7-4fa3-9d65-32bf3a4f2324 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:3d944594-bef6-447c-b933-9321f61c75de phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:e33475cb-b58e-428f-ad9e-b1f4c7439450 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:154d3ab0-d5ec-46e3-ba35-fd2c156d0a61 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:9b3b3bfa-79b9-4836-95b0-a444ce54054f phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:2751e384-28fc-4f75-b882-17dd0c9aeef5 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:7d646aec-68fd-4055-86f3-540168d59f60 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0020081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:716f5dd2-9e98-42e5-b686-4474730bba68 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:0080d9b8-2dd1-4aff-a575-e0204b07d48d phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0002363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:cc6f7cfa-db8f-4bf3-a011-4e925ce646b8 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:984e3f1c-6ea2-4aad-8041-9a09e118730a phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:239ca02e-0126-47a8-bf1f-f30c0834c907 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:dcec789b-d30e-4e26-b855-a7505e625b20 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b3e76fab-ade1-4f02-a1d0-f761ff0875f5 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:2b75bd97-f66d-42a2-a713-bdac8a12b7f7 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:429ab1ea-c1ed-4d1d-8fab-06e726a1c879 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:7d2d8ea8-9d13-4d87-8d91-14001164ea40 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:24ef89aa-2795-48a5-98cd-62cf5c0e4654 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b8006d00-5ffe-4d62-9f8e-523f2ec9e93a phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:ecf78a0c-1d56-4331-be86-c49cd25ecaf3 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:9b5257b9-78bc-4f03-835f-e6db31deb374 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:caa8b12f-7a64-4bab-8c42-886baab045f9 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:56c521e2-0347-49f2-b079-8734aa99ef4d phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:fe5e17a9-1b73-464a-b367-a665767dda10 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:3d9d1d3c-df6f-4e82-a16e-4b3e4743b05b phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:96dd06e4-5fed-436a-8dd3-f5c3fecab990 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b7414eb0-86a0-4061-8798-f86bac23ddd4 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:289b8b64-f7af-4e08-90fe-432c72ddd60c phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:cba51d5d-dc24-4641-be9e-5ad1f9cf80f1 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ab495065-a4f8-4b98-829a-df73638ee42e phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ee9bdcfe-faab-4762-aad8-8be07fc69e45 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:959f224e-7430-4f37-8fcb-438498129f7a phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:cc6d3286-c413-4850-9164-9b5091a2089a phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:02527cef-386a-48d3-a148-222d02455744 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:56f01dee-aa95-4ea6-be61-73574f79f9a8 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:095e633c-f7ef-459b-a108-cd3f7843aaa6 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:01cfc7bf-dfea-4afa-9c96-176737fe144d phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:7d07ce64-1ef7-4733-8795-aa172a28d60e phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ddada589-7a2d-43f7-972c-0ff4a9d7a09f phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:856011ba-317d-4c81-9070-a7b91127ac7f phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:4eaefdfe-a892-40b2-981d-95afe0d08ee9 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ee749250-b22c-4a7e-857e-1e8f93b39fb8 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:5eecd73d-99d9-4e06-ac5c-1dd53b6e253d phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:df1f229b-7ad3-4b26-aec0-d06db0592890 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:4b1df665-d98a-4b12-b106-a3c5da01c3ee phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:c8878dc8-1faa-4d29-9de5-e60eaaa2bc8c phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:0ebfa714-e13b-4a85-a296-35c5a63d7094 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manual_agent observation infores:phenopacket-store PMID:11118249 uuid:be7e0102-9294-47ce-8ddb-0757ff516775 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:ef01e3e8-563e-4502-86e4-409be7ec34c9 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:51703c45-9402-4650-b31c-86e7383480cc phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0004447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:e7056aa6-de71-4f66-bbe4-116b68649351 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 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phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0020081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:16083374-250b-4c30-bbce-dbf92bb05e66 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22398176 uuid:5a9c4726-5d46-4179-8b49-82fb9c94bcfa phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22398176 uuid:c8f2432e-44c9-4431-a675-c4747ad7799c phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:acf7c672-1152-425c-bb61-20bfbf18d017 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:5b5a6f3a-b6b8-47ea-aee7-99aa95362d5e phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:a88935be-0f54-4ed5-b1d4-c2c5bb80524c phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:c9d1c73e-bc58-406a-83d4-822ea5e1cc8b phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:6a849716-0733-4bd5-a421-4316a8f59d1d phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0004447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:cf3b22e1-a145-4efb-b81f-9248f2ac513f phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0031020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:9de8d49e-df87-4bb7-bb27-e0cb43032d69 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:94273da6-c722-458d-b8f0-2428b2bd607b phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:aad149f3-67f9-44bd-a14a-d92c82ce7f12 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 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phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:adf62024-b7ae-407d-901d-f4167eeaac68 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:56c5c9cc-c1c2-4d12-ae73-c1a848e00f16 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:64a3c6ca-c758-42b2-9484-6221967a9de4 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:717691e8-2e9c-4d7b-adba-3948e385ff23 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8f59e431-76bc-4eaf-90a8-7b888fdcd3ae phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7381b55-a5b0-4324-aa71-38235559e2c1 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1ffd2d1d-d35b-41b2-807e-000394038b35 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f9ea9bc-fd2d-4666-84ca-683eacf36f36 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001337 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94c73b71-2718-473d-8526-3ef4a8e1a69b phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51e3b74d-9755-4838-8eff-6eb1aa501327 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4fb5e2c6-02b4-482f-821e-b6feb6af38f6 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93ecd609-d712-42fd-bf9a-fe558ac9936a phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2410d493-b720-40fc-bb3a-faaaedafcc84 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a1c281a-689b-455a-b9c5-a7a062ff8a1e phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1059a6b-d9aa-483b-8fee-9fc2297e9a27 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54cf2c68-bb61-47e7-8d2d-10b1016b3797 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002870 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manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f7b7bcff-f2df-4815-b0a3-24ad5b2a1946 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37951597 uuid:9f7e359d-d755-4081-a412-54548f2e3d60 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:192b464a-f070-4aab-931e-0be1d9326e5c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dd388088-592f-4245-94d6-d4d4dedcda34 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9c00d3dd-c3e9-4f1a-82d8-79913602066b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:444fcfd7-77ff-4352-8c5f-a1567b57ec22 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4eac3511-bb0a-42d8-a7ec-4a84190f2d07 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bea3ff1d-59df-4f94-abe3-b4dca096251c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:75840e00-c14d-406d-b409-66d352c98475 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b486adac-e1c1-4245-a3de-107a48411914 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b0d2f6e-58ff-4e81-9672-866cf4c553fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c9b40dcb-fee5-4345-9722-bfd97a385a02 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0995c742-b2ee-4549-97bb-457c87b3305e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b8ceab21-7551-4ca2-982f-9eac1b604383 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4bbb0360-fe6a-4641-963d-70783f11e59f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c91476e-b48d-450f-943d-7de949392b09 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d6697ee5-20d0-4caf-81d4-4fcead9fbf3b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6354773c-9e77-45f2-92ce-3b251f86685c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:65e65275-ac68-4502-8f6f-2b598c6ba8d1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2c214560-1168-495c-923c-9f94111c0224 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6a2487c1-3a1f-4ec2-a607-eefe16cec46e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a4536975-8b04-40e2-adcd-2078faa09cd1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0da46b0-a0b4-41db-90bf-9c95c3add166 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7057678-6564-45d3-b6d5-7692167a1523 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:909e8daf-a156-439e-a9ea-c4f7582b70fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e1da4f1-3385-4d8f-8d0d-1e8fbfeaa6c6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6adc91fa-2f23-4a94-b8df-c5dd286743ea phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:efa62cb7-4492-4981-a754-1cd51820f133 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc43418c-63e5-4d37-95ff-fee014885d31 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22a5e662-07d4-4ddd-b4bb-c182c84694c3 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef3445b5-8de8-4963-872a-d10e64f60c55 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8a16bc6-1a0c-4252-ba0e-d60c4dad4380 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a556d827-dd76-49fb-bbde-6b6b9bba3fa4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6339fa36-afa3-429d-8d6d-670aff666f40 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:963568b5-4ab3-4feb-b024-e1eee3dcd009 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fda1893f-b90b-43bf-b99e-d8862934d174 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13ef147e-df40-42a8-9b9f-3b53c46128eb phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66dcd3d2-4bfc-4afc-82b2-5a6855d34fd5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f9848e3-9d86-41db-b2f6-21c5a003fdde phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:360b6a40-9466-4f44-9510-c6f83fe03c35 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9557255-5ae1-4e03-98b9-06c38b9ea3ae phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17715d18-4245-42df-a904-25714dd661ba phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1646893-0bfe-4355-824b-a1164b5b1ed7 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa427eda-a61c-4cf2-965d-e00de782b156 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1533b68-a09a-4906-a0d6-555dcaac65dc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:844b127b-7940-41d4-8e08-77514cdea799 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7abad3d-8d87-4d17-88c7-f3e02f3c07cc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6314170a-1aaf-4b4c-8e02-8dc266c3d870 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30170d48-793a-4be9-893c-2192925a2ce0 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:037a5dc6-b827-4462-b753-122c3cdbcd21 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5ef139f-15f2-4bb4-a3db-4c8163a3c2e8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14ec57a4-76c5-4d4c-8df9-abff18e130ad phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:05f934a5-2738-4312-93c2-77184ac055f8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2b9708f2-42d5-48d4-a99f-b72f656ee661 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:46393be7-2e2b-464e-9f8d-536e9613d61b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a6ee7b0d-4abb-4be0-9967-0113ee83925b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b5066f7e-86b3-4e15-af1c-60fcb9a694e7 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dfcbf721-7a64-4c66-9629-d4d5679f2319 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e6532df0-13bf-4ccc-978c-168153a3c78c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9d9be4a1-575d-4449-873a-7a16acfb7d69 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:93a865d5-398e-4761-b9ca-634739cfc990 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:797acba6-eb59-40bf-add7-e20fdead3bff phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:687946a0-c88c-454b-b643-62a1615789e9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e9dc73c0-2088-4a85-8cda-f4397355df9e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:778dbd61-cac2-4385-98bc-0711ee2b8a56 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:782fb48b-b414-4f61-8baa-6d22bf5f5e1a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d32f7a08-eb72-4f2d-bc3f-78f5390c90d8 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0766873d-835d-4adb-ad21-f02fb2c49a41 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42895b1c-d6c5-488e-805f-6d07e773e142 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f635eda1-e35c-481c-99f9-c3897854a80a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cb6b63c-b33d-4862-a5e2-d07fcb82df80 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e02f39b6-508b-45e3-91d3-a20096b43101 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:334ae0d8-a508-4c5f-874b-0f4932a4d0f9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf461afd-a017-4efb-8497-efc679e0af04 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5633855-5bfe-4361-b4b3-b0da2bccd486 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afd10cfc-fcb3-4258-9dea-9e3cef5da71b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f71ff303-0f9b-4597-932a-b4fcfbf729bf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8a83dc3-c75d-4a60-aa32-05c1d2c655dd phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:216ed558-971a-4fb2-a69d-241d43930f1f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f612f66f-bf99-49b6-bec7-faac493712d5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79f670fa-4299-48ba-8904-d6f1ea468eb3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a42334da-775d-4de6-bffb-cd8b726acf81 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5001185-dde7-42ed-9cd1-bc506fa1d36d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:745d518f-7776-41e7-98ce-17283203ff7f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bab9d3e3-05fc-4aa4-9c80-82585a596d9b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9b2d656a-d774-46b7-a8a5-578cc5c96a3c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93b682a1-1833-45bb-b2b0-afed769d3cdf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e78ba21a-2218-4d5d-8230-cff6e52ed69d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0663d461-6494-4d56-bf4e-1f886dde9ec5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef2007d1-980d-4047-b2cc-152934946d3e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dbfcce4e-d066-4421-80f6-ed4fee7faffb phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc2cec73-3c83-41ad-b983-bd7f0572ebb3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f93c4351-c91e-44ac-a328-797c20276db8 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7cba8927-6bb2-430b-add4-ba5358395329 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:121f7f3b-dde9-48f3-aa47-2e6b4f09fccb phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ed73c77-c73f-4b49-9d54-84749cad1ba9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c143a04-3877-49cd-8424-7e48aae65d81 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5bcc9288-869d-4e01-a697-37666882e867 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:316984ad-42f1-43f7-869c-c5d39226b512 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f870147-419a-4b96-9326-cd97111606f1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3da8f977-e6c6-4a1f-9432-f02011010e4f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b738bc6b-3d2c-4cfe-b4fe-25a952b7c6c1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fec730e7-284f-4ee7-8df5-10ca7504a68a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47661416-b19e-4d15-b971-5a139d2379ec 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phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e021a502-419b-4365-bb31-63c314ae4795 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e652ac9e-f34b-4389-b0d7-c234de34065e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56ca2ba4-8980-4672-a745-ff44e1bfcd37 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6500621e-8827-45ee-bc72-69f3de879f22 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biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9532551-f780-49da-91ff-25065383f312 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65d0069b-fb39-4a17-9e11-5cd629735f44 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1c94c89-547a-4941-ba69-9a3023ed7976 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30c2132d-195d-4b3c-80a2-c03bbcdae11e phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa38851f-6192-4a22-b440-b42f7c043f02 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4df6ad47-9fb5-4e27-96d4-1d65a3aec4c6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e91e487-f468-41fb-8b85-5afa2f265315 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:71f4663a-c781-4e4c-9b1d-d381fd3692b5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d3f35bb-4afb-4b64-a16e-eec212875587 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8917897-36a7-4047-a9ff-a04c4c6dcfd6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34828c49-71a5-4f01-a3a0-6216c14f7eff phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2b260b67-48a4-42b0-9b35-eac4c548fd76 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47bd7f4b-061b-412d-bb32-66be0bbcf1a9 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:da77afda-e8bb-4497-a23d-612db95e8db9 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0dcc3682-33b0-4c79-8bd8-f88612d2b764 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:896a145a-3adb-46d4-8558-645f60eafc13 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a42602a-c2f0-42fa-a90d-4e14aee481c5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b0b401d-66fd-4a6c-a16c-c4cbd2d4ce99 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c644d6d-4e9e-4928-99db-1ed811fc1fe6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94550fa7-aaaa-4e3e-9e75-6ace1f8f47ab phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df9954d9-8117-472f-bb3e-e2c9f687ec47 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c632f1a-a063-4c00-b676-486fd37f7eda phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5fbf04d-95a6-4199-af89-e3f312026535 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b7ffb9d-a197-478c-9052-cfee4f0bdda7 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9decf8d1-0099-4c3e-9d96-888d72a8143f phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65f28e79-eb18-4190-928b-da447481c313 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15a2a43c-613f-41ff-b41f-51286ddbecbe phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a7dabee-1ec0-4d3c-bc08-ee9b335fdeea phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001513 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biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:69186cba-5297-44f6-af25-c2ee15546c04 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6fb6ef83-98ce-460b-b849-22f648cc66aa phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1409cb71-a29a-44d0-a7ae-06b68dd0078b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:488730d9-4b0f-45cb-ba84-de888cdb0ddb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bd97c9b-67dc-4011-b54a-e608ffaa2953 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:87fc9f21-5ac4-4186-b3ed-4bf261dfc49d phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:52072e4d-123d-4c8c-a7e0-09642eb5b810 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:effd3136-b5ba-4e11-9210-b2ff2631bb36 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ad89e770-5e36-4f93-a477-2769c5654162 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:af5dfce5-65d8-4c58-89b3-973afe8a2268 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d2524162-3d8b-4f06-b3be-22629c15a45f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b8351850-3b91-4e30-a695-320c6ddba558 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:12c5b914-1ca0-4b8f-acc5-f13b02606e8e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d59af8c3-6957-45e4-b776-673a9ffe9bc9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1e59312d-a684-483d-9aa9-2726a8747fc9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e67bb87e-404b-492b-b4e2-4dc1bf5d5589 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6a5ed797-6707-41d7-8f99-8e7a02a7c396 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c34f8d1c-4b7d-4730-a034-6d6c9552adc6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0e715aa7-947b-474b-a343-ae6ea5b6e1a9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:38eae4bb-5191-4109-80eb-59db2ee12402 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8d2876f-33cf-4300-af1f-735e52d83229 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:385171da-e3ef-48f3-9870-0896230eddba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ffb908ec-c256-4de8-8501-2137173df000 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f12bbd63-f974-4cda-b131-19d60f1bdcba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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infores:phenopacket-store PMID:37951597 uuid:7d53d11e-b8b1-47a4-8201-e875136c2e4b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1544d3f-0033-4f9b-bc4a-dd952f16be0f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5d88584-1dd2-462f-900f-f773d28eaac5 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ca9d76f-6643-4ea9-95aa-0dbfdcbff4cb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:12ebe7c4-8dda-4751-b5ee-474f2e75680f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:5ad8a6ed-3a8e-43cb-a8d7-13ddf0ed63f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37951597 uuid:79291106-164b-4301-a0f6-3b896a1f9a77 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b2174b0-3b66-46b1-a6ff-1e03409daf21 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phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:438a5589-4986-4f5f-a58b-0b180e6e345e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0fe7cbcb-9ceb-4d33-b14d-ce3437a3ebdf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:183f67e2-5de4-489d-863d-918fbea3ae2d phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d57427b1-3c41-4148-8756-fb40d8d0c724 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:29ced1d9-8cb1-46f4-aa51-4d77163fdbaf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c4a091c-8117-4a56-acb4-9baca1db9501 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ee555f4-9f8e-4af0-8bd7-1b290e344e55 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f48c4a25-606a-4894-96a3-943846b4a12a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a9cf3fc5-fa53-45da-b407-e00d8c613b31 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a4151769-366c-49d8-957b-02b18825f37d phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f48e5aa5-61db-407e-b9a9-297f95c5b45e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:845373eb-122c-4f24-8482-1b6838077e6e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:338a1ee7-455e-4409-88be-a32f75cd6b79 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9d2fccaa-3124-4f05-8f9a-61ac9d2b52f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31190172-6737-49c5-a61b-61571815d0b4 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b185865e-633c-4923-bcab-7de4cefd8687 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43778aca-6ee0-4ed2-9756-7a7b8ba28144 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f507b08d-eeba-4c7f-8463-587b5f978a3f phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4fdbb66-042e-406f-b50b-07cf800bddf2 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76ecefc8-d620-4a25-a68e-97ceba61f4c3 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0cea7e02-e0cd-4cdf-9ea6-09b1ef721a35 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:971283ec-4780-4dd5-8ff0-389aa9300c1a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5940535f-9342-4521-954c-51833f2f7a9c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea6034b6-0988-45e1-be7c-0cfd12b1935c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a55177ab-4b64-4e5b-88a8-eb54b1cc49ef phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08fb27d3-f74a-4070-be52-7608ffd241e8 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76e36007-1ec8-4c4e-a6dc-5b0b936c2acb phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4bc36c5a-065c-43e1-8da0-840a59f109f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9cf9d41-e225-4652-81ee-e275c301f9d5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:348cee94-de1a-4d90-8d80-2fe1c2fbd84c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5b4b385b-1314-4047-81fe-c3c390910fa6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d669edc8-1710-439b-8022-c1946cfc10e5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c22efdce-2196-4387-b4a0-5da4739e3ee9 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9f5c292-c19f-4ad2-bbd1-aa74bf64938e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:422eb7d8-9213-461a-881d-b5f017ff93f8 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cd29dba-27e1-4a3a-a5b7-b83d359bfd52 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:218fcc72-263f-45b8-b6fd-2771961b1037 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d1647e4-3676-4a4a-b81e-5ee4b9db7035 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7aaaffc-e028-470a-b30b-8dc22b15847e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4aac6b8-e877-49c4-97ba-cb4b102748d4 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d5f27d-92a3-4a0d-a6c8-2d1a74017361 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53ecb314-55f7-4fcb-9a47-142f0993e884 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e0adbbe-4b36-4f69-a623-7a1df38d898a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d42d55a4-7fb3-4106-ba2b-5901a70b72c5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:18cee32d-8b4c-4c4b-beef-e6f3e5ef77bf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:12cd83cf-8d26-4f69-b101-520b84dd789f phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b008fbd-878a-463d-948e-4e985a2beacf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b4825b-438b-4792-a335-000d43b39565 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ba6ab50-7d3a-486f-b6ce-00d128269f25 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0bf4347-0a0b-492a-9e24-a80c53456d4c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ada58b45-0770-4352-af8c-aa5dc5d22ca5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:579efb8e-aa9f-4852-99f4-88a57025acb4 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phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d78e81b-241d-45df-9e43-57be6244e310 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:167556e4-5252-43c7-89a3-1f87d7968a1a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c1780ad-65e5-4fec-95b5-4ad6503e67ae phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa85d9eb-b996-4a29-86dc-a7f0c9f8bac0 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phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:84c41487-b042-4870-b9e4-8152654f75d5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:55f87f50-408d-4871-8eea-1d2d25545e93 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e32133a5-1b59-4f2b-a068-f2bd30633ec7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7f00ba2-aefa-4a74-9234-3db06cc69e86 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phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9fbe8216-fca0-4f71-86fe-2beb66b41f9c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ad8e9fc4-db40-4067-8f3b-189e8ebf2c0c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c6e07b04-afe0-4795-876b-3001612d1e97 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f0cd6145-0355-497c-864f-a199fb36ea99 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phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e2501ff-e696-4125-baa9-8622278dfa1f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c361d6da-f331-4ac6-a199-2dff68412f81 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4ca32b8c-4ba1-4890-aa65-8440d19d4b73 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:46417d7e-436b-41b2-ab3e-7bd1b9d46135 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0098693d-2dcf-4cb7-8158-4954400b5e97 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2e01cd4-b149-4ad9-9e8a-cbe1f4dbc705 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba2a13e2-c6dd-48ab-8023-f072ac0e6811 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1cd6a6ac-0f2e-4ae8-bf15-b12786a10667 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f289d1f-b5fc-4283-951b-70e525ebeb53 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ea6d833-dc15-4ee6-9e8a-8178d5c196ee phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dbfa87ac-db6a-41d9-a42d-dd3cef7b61ce phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20dd3a90-d4a8-4478-aa3e-71a62f544d9b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5337f81d-4247-4768-b1fb-05ccdeb98161 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cca1df6d-9d33-47d0-9114-36bc2027f23e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7d3450a-2083-4791-9051-b7d4a9e8fcfa phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51463d32-1082-442a-a1e0-9ac38ed38228 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:02b5eb93-8177-431c-afa5-383ed5fcd7e5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70ac4e70-b56a-439a-b824-304a35be86fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0aee682-a0f2-4cb6-88f9-f04b3318c260 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6048ff5b-a5ef-46c8-a532-d3121bb9f375 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a794b1a0-7405-4905-9851-c6688e9d7c9c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed350d75-777d-4af6-9823-9a23a02431e0 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0dac257f-41d5-459b-b030-454ad8babc15 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6bd8d859-f49f-4565-8436-2d40ede2bc9b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:528b7dbf-73f9-4d97-b239-6cf25a309593 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc973c94-3e35-4a05-a603-60d13f2ec106 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:441a3948-2ab8-48aa-bf8c-19f60d6ce7ef phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b97fba6-1564-46d1-91f3-75a3f43fe4fb phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b458c186-1259-4fe4-92a6-12107bd6e670 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae1912e0-5aa1-4840-b042-8ad042ec9ea5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:446cbefd-c0cb-44cc-9cf0-c6a682671fe6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10512872-4616-4bcf-ac92-4235709a6008 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd7a2ba0-41aa-445f-8865-dee7537183c3 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f2e960dc-f7b4-42ca-a83b-4632917c8105 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b41efb71-fda2-4e2b-b28d-8d700fabf9f4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:692cac44-f2fc-4f38-a43e-4a64eecc226d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8759d3ca-90d8-41a6-b8b3-3a06e6e3d2b7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9984ad1d-3de4-4bb0-be50-ecdcaee9a77b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5bff0cf3-d738-402e-928d-fea4a1e30c89 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b185a09d-028f-48bb-84f2-bc65a1375277 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7d61eab-de84-4aaa-8746-474664904097 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90f29fec-3fde-454a-8639-751167cb1c16 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c91851b0-bef7-4f37-ba85-7e67e687d07d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aacdc8a5-36b5-42b4-a75a-a2b216e0df0c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80f9692c-792a-4ccf-be56-9b41ad64b8e2 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc03cde6-783d-4406-8947-ba766fd3ff2e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c013bc1b-85dc-406b-bee8-218913c392f7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd8db8e2-ba31-4a5b-94c9-2e04ea772b94 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phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e99c5357-334e-48d7-b258-a1f7754beeb1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4e42f16-1491-4b07-99ff-c84e2931b2c2 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a500ee24-7bc9-41dd-a3f5-7d1c933e8b44 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:867b7d02-d87b-4b63-bb0e-05f442944b5a 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biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91a8f55e-ba27-424a-9beb-330bd6c06553 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06a6eaa1-d0ed-4804-b8dc-7d8d0cbcb42a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b38b840-9f3a-488e-a232-47a78f42bdad phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2460a75d-cb06-4c60-bb70-7d053a1292f7 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dafc9690-fa85-4e69-8cc8-313f02a50236 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fff23240-e370-492b-b2a3-d712ddd89995 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4adace80-cb4b-4d21-b0eb-cbfe21fc6ce4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d9f3495-6a89-41e7-8402-d4202b0c4ee8 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf728efd-3bab-4d07-bd1f-a12bb2d0087a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22e1a1bd-dd02-499e-a748-619a8d823eeb phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b482c5bb-cf44-44c4-9ef5-9f3ba93b593e phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d6c9fb1-0314-496b-82cf-86997f80f2da phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb4cdfb6-6965-4756-95b2-dffae9fe0e03 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3cac64e3-abbd-413a-a0af-7349a2e590d7 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f3d453e-9f30-491d-90a6-80bd44385e12 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15edb3a3-ba7f-42ac-9137-2149a9f1e22a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e357032-a5e7-4800-90be-ea83497c167c phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5acd4eb0-c30f-4874-a176-137c87603092 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14289066-9da0-4736-8eb2-e699a763f503 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6cff70e6-1cde-4f45-882c-bd36ae855408 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f2b93661-ab19-4c86-bc91-414f68ff4788 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46b5e213-5113-4491-8460-9d1de202504b phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce08013a-0de6-4a3a-b08a-383f07d6655c phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4240cbc8-c59e-4790-a5b2-569c01d611d3 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78928d4a-7293-4ef0-b0a3-5f0ef2aa73a5 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57db9df2-4f9f-4abe-a4cd-8267bf9d04b2 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f9d15a98-6259-443d-b6a0-72db16ec9991 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:551439e9-fe05-4828-9520-a600d5fa7aa0 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b345aac5-b577-47f5-b098-7e2453c6f262 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0698bfa3-e17b-4994-a9bc-acfa8bdb0914 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bababf81-a64b-4443-b099-3584f200b96a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fb149b2-6a81-43c2-8e50-6f438a496d78 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8891dd61-0eea-462a-95f8-9c057b14b07a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b591968e-0502-4d82-8469-f64e23e2bb51 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac9004e2-776f-498b-aaaa-19b7908d0ded phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77ef0c05-4e95-426d-8b2e-bf6ebd9d4225 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70b09bff-5754-4b4a-83b7-b377ba5de566 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dbf8702-c0fb-4873-b7c7-880dca6d349a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e9b33e2-8e8b-4e56-a94c-d54d335044c4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a224591-1024-44d4-a1f9-9702402b5fb4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46860fe9-549b-451d-b7c6-aa70e747eb3a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4a55c83-9af9-41f0-80e3-68637b3506ee phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08e6c3fb-5874-4a6c-9c1c-f58260cd9739 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c12f019b-9707-4f0c-912b-7b479ad12d6b phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_gene HGNC:23339 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a487769f-e5bd-4723-b50b-053cc94ae21e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d30523bd-5576-45b5-8171-e69d1da7905f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4eb82047-6475-4cb7-9f85-e93cf19a8f57 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e3a8dd97-1605-4889-9753-ce7465bc111c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ff5970db-90bc-4f6b-af78-8e8426d8d5bd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:591a4c48-c3df-43bc-912c-72b393482b60 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:94d5d617-247f-4b86-b683-0fa443bf2ff6 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d3ded292-58ec-4c59-ba5c-d94e254ab1d5 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001344 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7e003f4-1a29-4344-a2fa-e3fb2d2d1922 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6c0afef-e331-40ba-a3e4-8b49172127fd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc8422bd-ebb8-4d35-b517-2214bf583cbc phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cccf1f17-9638-499c-9463-03573948e1c5 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85fe0c95-ac24-408d-b7c3-553e99012d3e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33df195d-be63-4e0f-a8fa-2634949faddb phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee78324f-3bb5-4665-b0aa-75f0697b00c8 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec8c9028-976e-43c1-afec-bad4f773ed3e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6227964a-1585-4141-8c62-2eeb6cccf6a1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca7c299b-a42c-4f1d-899d-b086e5c4e6c2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2647e9f-26ec-4d57-a9f4-ae35baf82c5c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bf1e619-90d5-4a54-b32c-acc358ff8aaa phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5961d75c-6bd6-4f18-a088-cd2e3c69d4c9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4237179-f667-4797-91e8-548d996b0ae2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2613ad66-2336-460c-a082-e43f33bc541f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:219aa2c5-0dab-4e8a-a881-8dcb873e5d03 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:999981e9-2ad9-49e4-8213-daafc5921be3 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66fcd030-fea5-486e-889d-ce68f41c5313 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97e58a8c-0a0c-49f3-95c0-f9b8b27d1908 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5074b09f-0358-47a7-ae72-7c13c273dafa phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aebbaac1-364b-49ca-ba6c-303db2e22535 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:064cf3cb-a4df-442d-87f9-09050d388c15 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41571a51-3db2-4e7c-8e4d-ebc3b00f3ebb phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d63a555-cb2c-4f04-aac8-daa6906eef8b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3fa8ed6-31bf-44d2-a639-a5bbe364a3bd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad2ea19c-da4b-4951-b5c3-38c0ffdfc5ae phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f374818-5b5d-46db-9d29-26964c8a3b66 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0d4b089-2056-4e20-8470-0f8d55b86d74 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7314798-f113-4e5b-b45d-24c3068f0ce9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:174541a1-70f7-4735-ace6-5198f3e68cc3 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:727472e6-56a6-4765-88cd-81ec204bbefd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4188024f-c08c-44c9-886a-6eb3742ded15 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84179f00-f83e-4342-80b7-a56c4a0c7d36 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5006f41-456f-46bc-bd70-8179fe13ae57 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ee89515-dd11-493a-866b-1aac39d7879b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d197b92-5585-4e48-9581-1857ef9dbb14 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9c05fd5-2945-4888-a8c1-71b02c201e49 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7338a10a-0f5b-4ed7-8936-817e2138ca63 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2b593f54-c3b5-477b-8a0a-2660a8aa9b7a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72865d57-9432-4196-8a70-45e4846a6af9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2225a1b1-6996-48eb-bb1b-58f17c0e63e7 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d956ee9-6911-4b63-9e1d-04a84264c1d7 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15da7794-43db-49f3-9454-2dad4a2853d0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b70b66f-bb9d-476f-b413-a5808396938c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2097368-fce1-4ba8-93d2-53ca6cbcaabf phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23c69301-3f7e-4544-b346-e46d441aed99 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f185a09d-92fc-4f74-9d4f-6ba8fc314778 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8839be6a-3ad5-4fbc-b423-6d0acde01d49 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f034038-dbae-4056-a495-dc6198d1b1da phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c8677f1-56f2-4734-b652-dc9cc4fc47ce phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f6bb07c0-4b5e-4e10-a753-aea2fd64c327 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57051070-b615-49ca-9b0a-34735c6e98a0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad4023d6-77b7-4c12-8bec-b1065fc5799a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d724272d-eba2-47f9-8a97-d90a0fc7920f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55e6272c-5514-44ab-94fa-5e770d53cff2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbf58c0d-e031-4aaf-950f-c22d68f5ffba phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:050cb27d-6d1b-4c89-b9c3-8b57a64a4a5a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07e85fb9-662b-4ac3-8bdf-3c9dd7f22be9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:da0b9d7a-f94f-4c3e-9cf9-b3deaa76ebbe phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:cadad908-b18a-44f8-8cbc-9e067b5e554d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d95f6db9-ba41-424d-92ae-93142cf4b276 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d0cb3f19-75f9-4e39-bda3-b1949b26a63a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:48079080-f4ec-4f04-8f7a-f7fd94ba1d30 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cbcad52d-7e15-4b00-a6c9-0b1ce9b24530 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:759ea176-d788-4cca-8fde-f2ad08017442 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb947d08-54ba-426a-9857-8afba9635c27 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2af9fce8-1c54-4622-98d7-a55897653348 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a2eb200e-988e-4ac6-9cdf-328617a7958a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ef337f29-79bc-441e-8e1a-29a7652dc673 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:975bffb2-16e2-46f0-abcc-b511ac46645d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bf5bbd91-3ec2-4d3f-8bfa-919460fd2ad9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b309e3a0-b57f-4cc3-848f-95234ba04b9a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False 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phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:27529071-b7dd-4c04-a8bf-81d3dfab8864 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d57f746e-4fd8-4ab1-b871-11b848f71262 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f6eae21-1436-463c-9850-c43784ed47a7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67ac4d13-1a79-41a4-8e1e-7af115374a16 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75209030-58b7-46c8-9998-14087bd8d80d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fc81265-310b-451f-b1e8-d57c87c6ff07 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e83bb835-1515-4b16-8687-49da9ae055bb phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ac19206-d87b-4fd9-ab30-7b4d124fd176 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ffd7be65-12ec-41fa-ae2e-0da7c0026e73 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80822e1d-cad6-4fcc-850e-6f1596566f4f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:abfeb9c6-0ce3-49c6-99b8-b297e61d841b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b90a15a-1bac-47fd-97de-76929f4522ed phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d4c4fd9-bf93-496d-8bc8-eb76f61670bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66a07d9d-1636-40d3-9e9f-fae397ca8989 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0770a0a9-61cb-4b25-a4d3-ad6cf33da9b4 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d523c0b7-079f-4f99-b375-94f528a34744 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aab4462d-9659-4197-a726-e158f366959e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1acae24e-4457-4920-91e7-fac1feedb295 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bf087c1-669c-416c-84c2-c8395d2bfc9a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b40d841-789d-4ae6-900f-500a98da3c19 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4db8fb68-c587-435b-9d5b-55ed98650a9b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4b9a537-7859-4b37-83ba-135405fb5a5c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab654323-46c0-4946-8376-5c944a376a99 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91341ad5-dd30-452a-a4c1-d82c434d2af0 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c947a457-aafe-4293-9c8f-947afcedb21d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c192bea1-e9c1-4b72-b6a4-0112bef8608a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5363a31f-7b6e-4d15-9a5c-362f7d3ad304 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42e6b14e-1268-4dd9-86fb-76b5e656e52d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c19f059f-f428-4c54-a08e-d7a7242def62 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ba54d1b-851c-448f-b8c4-fa2746d26f51 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f955f64-2d68-40fa-8c79-4fa89fbe1004 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df95d2d4-aa2d-4ebd-b11c-ebf8fc809e09 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:992d40bf-0011-411f-b348-f7ad7a8efefc phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d4e47b5-f3f0-4a2e-af59-aa2a4c289ecd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a37e0047-ee09-4cff-8813-7a04c54f94bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4532972c-cfe2-4771-8654-f1305fbb66bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a079463-e2a7-436c-8b37-432f681c04cd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45d02684-9885-4cbf-9850-7f4982f77998 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ffaeb46e-21d3-48b5-89b2-0e2077204942 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a9a7b4c-be61-484d-83ca-a62e67440ebc phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69112550-e624-427d-9b8c-74a1d20509b7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:528cf04a-01b3-49b7-a2b6-a4b3cee37879 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:665993f0-abc5-4ada-b97a-60c69959596e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4127f577-986a-4f13-81ee-49738f18aae7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e0754419-af9f-4d9f-94f1-6d73aaff2d60 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:347b36e0-e0e6-4af9-b12e-ae8cb57a6a81 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:37951597 uuid:2c5b8b96-cd73-42f9-856b-61679dc5a6b9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:45d51a52-6706-4c13-9edd-a3eab634e06e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:58bae2d3-e401-44bf-bf40-d65f4159f40b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:82b3fb97-3e2d-413a-bc32-731f84a344f1 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5682eb56-77ae-4983-8b8d-d579eafddf11 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1dab0f67-b3e8-4165-af23-b85f4b7239dc phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:29f5eb0a-411a-464d-89b3-4e48c43b0b30 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ee384135-e4cb-4ce8-ac0a-a67e3855e089 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6ef2350d-c491-4ea8-9e7b-b39628929b2d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:52b60ec2-6109-4bef-982b-b56c9ef452a2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bea88932-a4b5-4ee5-9a0a-a59c25f9d619 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c6a3666c-e80e-4b19-b812-37b20445179e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37fa0ce2-e736-48b6-85e0-d906a6cb74d4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec53a131-fb10-4b90-a1ef-bc1c5b611d57 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e37d01fe-4526-4cec-addc-1a8adfcda800 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7eccd26f-98c7-45f5-a02c-7a8c6f2e83c4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:845a0283-ea0d-467a-9bee-3f62362e6993 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:76f42bea-cfd9-40ff-8b63-2261079988ee phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f9c3f10-9631-47ac-9abc-1a3da7671ee7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d50a461d-41e0-404d-8ac4-871935e317e4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a50787d-d4e3-4a8a-9d7d-9bc0929544c0 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:346af4ec-d074-4808-87d5-ff2f736c0417 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phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9956bfb1-f1b5-4e5e-8948-872c7608caa1 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:92765e82-d9d9-48d0-8b14-471ee8d5f0c4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea59b04c-eadf-4be7-80fa-92895a0b209f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0efc801-b77d-4d02-bff7-f84cddb44148 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a879f8c-dc1a-4c7c-a105-71dd90bd6b36 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4dbec2e2-6d18-4bb8-be2f-5ac0f899b195 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cfbeed54-a239-4991-b3e2-9ab9de57f88c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26bd02f5-5af6-444d-b169-9d081e8aa397 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94799827-124a-4c34-b86d-5d9f87a77457 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43953dd0-c94f-4637-afdc-d3d2ea6c4152 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:735ec846-2ccb-40f2-837b-45058b1fc261 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f95a2855-1b1d-41af-b7af-733b774178f4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:11c10dbc-ed89-4746-85ea-2e0d51b8cd05 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56c1cd88-2927-4e9e-b5a3-35948ec082d8 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08514734-6746-41a8-ac66-94bd1dd6547e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4f496a6e-f74a-4d80-99ec-e5fa4d285806 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1811386b-cbd3-4b08-8e56-1082cb110361 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77410f1e-cde9-4335-a027-f99651cc3f8d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce998679-9129-423b-a647-a9f47b490d58 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04bf2c0c-0317-4ebb-a23d-f7e5e46c6158 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65db41db-263e-4394-9335-a6b7dfe857a5 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7183c0f-5ad1-412c-9552-ba2ba497a7c3 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af40b1e0-d65a-4372-ab34-52d5a3ffbad7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85640dbc-a6a6-4b38-9124-9d3a8a32011c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7593772-38e4-4cc4-969d-7a6309d83136 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5720223-f209-4f14-965b-fb13c16d386d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1298df2a-0d5d-4d00-9005-d6c1dea13b65 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2d5fbb2-e316-4c17-9436-ac62704fa3bf phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13e0daf8-0bba-4b59-b026-adc3f5b34def phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f2c370c-25d1-43d7-aa9e-6698d0deb135 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24e36d5e-19d7-427f-8ad1-a08024eb088c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f6d5c92-a1cc-456e-b51e-224d112ff3e7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9552ff3-dd07-4f57-b895-91e47e3c4cb6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7389ebf-af23-4d56-9e36-2b37451f0f68 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7faaa720-d535-434d-b0d5-cbb956b83f2b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbb62c8b-173f-4c3d-8c6d-8aef3156007f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc937b93-d702-4617-9955-84f6a9b409d2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b26f17ce-4653-41cf-a1a6-6beeb3741914 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e65c3ad-ff05-4692-bd5e-a805a35010a2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e29effc6-2091-436a-bd9e-d9cc6937da6c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d28fa94-67c8-419b-b4de-a17e5b24326d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f238a641-a72c-42a0-b96d-4ee5bc82bce6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c36ef9d3-c4cf-4d61-90b1-5a780b23e4c6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:ee490726-eabc-45b3-aad8-eabf65b4569a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:957063de-a177-4d4a-a5e4-15b961e62ade phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:261e201d-2624-4359-96b1-88495a63e0b4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b5ea4f2-66e7-4b0c-b585-60c98c72868d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f3de8d1-e876-4c3c-8685-030c0072d7f5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e05b85bd-1ff5-4099-9234-c97f29399d8e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3eea25c6-086f-4b68-909f-37cad84faa7a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d6aa5459-be29-4eb2-90ee-ff4946b47c43 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0cca4f00-e73f-4a99-9ee5-bad0c74b55b0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9a4c8946-9a5d-412e-b4ba-38aadb806d1d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:675d911b-b204-410a-99a7-61259ac6de3a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1a72a0b0-15d8-41e3-af3b-f15e3d6095b6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bb641d3-e4ec-40b8-82eb-4465d5f0409e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c134e952-b1be-4304-9793-0c17b1b377ee phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:96a754b1-11c3-4055-923c-a40fed4bb9bf phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fcd51c11-5007-4e2d-8940-8c310569d0e9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a99d5ade-7f3b-415f-955a-96fd6cf438f8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bce1c472-6550-43ad-8e00-6a1205ff6d6a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:be7c261d-91de-4a05-a441-ff646123a537 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e61389c3-e36c-4940-88f9-1d7e5bda81d8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b77a1922-804c-44ab-abb6-f539d1fd04d6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f8671ef-dec0-4ae4-a641-f4c066f04b7c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b17ca97c-8e90-4953-afa6-ae86b8bcc758 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:616df555-a816-474e-ae32-86c0827cbdba phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:11ca3eb7-f00d-4251-ae78-78e370d906d4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f7ee0517-f90f-49f9-b2e5-e1ab68fae1a3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb99b8a9-e136-407a-a5ec-6b5ada7ba559 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e718bd81-a98f-4dc5-915b-1f6e2d1a4785 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1cf844a-f1cd-47d5-a82f-d58e564a0f67 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phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7c29406-e79c-43c4-aecf-4a193b4fe600 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df04da03-bb4e-4656-9099-8d3e18756203 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec07fcd6-8eaf-4709-be5c-6a271cef13b3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d05560cc-8304-45fc-a8a4-5682cf170e95 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e001e76b-99e7-46e3-a661-e0ecae37efa4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:638c279b-b81f-4414-86cc-4e27fa3fbf46 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a384510-30ff-4b40-835d-7e12328bcd21 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45033845-9257-4817-9304-2a580b463e89 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ae7e209-21b9-4033-b803-0ba54edcd198 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e0232c9-d81e-494f-b8f0-49fe8a01b831 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87ef4da6-58d9-4a38-98b8-2fec16f3290b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:01925a14-8193-43e9-b9e7-d4d7e89bfe43 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a484a9d3-799d-4bf0-9b8b-0eeadf273a38 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77e950e8-2b64-454a-b590-dd75d6e1f518 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e9d2f50-83a2-4749-9784-7011ae31915a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fda07872-4c23-4d81-a6f6-6b5beba0e912 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56bfe789-4f1a-437e-933b-73d3dc1a1045 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30c800b3-9dc1-484f-9ba2-6d5e7ba3d745 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:da1bc2c6-08d2-422e-a706-9001e453b954 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9c902087-5cb9-4758-8cf9-c3ff35c48655 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f97aae38-dc9a-4daf-8270-57ca88c1b035 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93ce8c2a-799e-4812-b95d-215ce4463717 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1e3ff43-69fe-4702-ae5d-37fcb94ee9e4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8be68a8e-ac62-4fab-abcf-2e48d8c1b21f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e97bdac-59f7-4b18-9968-7d2eba4d6193 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2343cd9c-5caf-4b32-936a-3aae298cc6f4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:598bb768-36ef-40fd-92ad-8166fde42f01 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6be378cd-4795-4a62-ae29-99cd43537026 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a7230f71-3666-4789-886a-a30a789a4e7e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbf7cc56-fe03-43d0-a7ec-cd65a4230e49 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9803e03-a078-473f-9be1-aea9ae33ac9d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2ccabf5-096e-4452-bb6b-8eb83202438d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0f98072-faf4-4476-b877-9574ffbcf856 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:306921b6-e74e-4105-8cba-de8cc750ada3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ef2e2a0-2a2f-477a-9af6-c3a9099c08cc phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50190b85-0cf1-4e7e-ae62-5d5dda9baf92 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7fdac032-a11d-4f94-a6d6-3b17f18787a0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85577223-9cd1-4ae8-afd1-458643276a3f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c4ec005-bcc5-4a35-b605-6626c97adbe6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:fc48bf7f-56e2-4e3a-b69c-26282c8b281e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:3e3fffe2-2345-44d6-b556-59d04b4c9340 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f67676b5-c30f-4467-b466-116121a6e340 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e8554917-384b-4a1e-988e-734f50f14bd3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d233c9ad-6a29-4850-adde-c8cbfdb0640b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:47bf39f1-4985-4e66-bbb7-8da50dad5fe7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c2abaadc-37f1-4ce7-965f-334e2ca89a7d phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b27bb688-a18e-421c-a2d5-d1928a9bafe2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:094b84a5-4c5a-4d43-9a6f-9939ada3759b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3e7332f2-39a0-4a1e-a662-c14338c9c80f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e27aad76-c306-432a-82eb-0ea219692e79 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7a7d5ba-758c-4293-a07b-37ec8c6fbceb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7575c4b8-9cdc-4ae5-bc44-941dea6e381b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:19fc9fef-e57a-4b82-ab42-17fbbdbb6534 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:115ba8f8-2efe-4a3c-90f3-096d97ec0412 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee012cfe-fc3a-42d6-988a-12d0abaf2663 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17ae3b07-4a26-4ce3-ac9e-6e6a72a02707 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61345a68-94ef-4e35-a6e4-d023d7b7de84 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac8e482d-219d-4804-b189-c2ada70bc566 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a6789fdb-4645-4104-b89c-66ba3b64a30e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23afb5a2-c40a-4bc4-81bf-d9aa5181df31 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a12e7794-9132-49e9-b1f6-450c6d15893e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7230e182-b47e-49c7-9973-a9530c22ebc9 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ccfc265-4bbd-4949-b2cf-1ffbf63e4ce5 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdd1678e-e6bf-4160-b31c-1668e91585c7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9190d7f5-c865-4196-8b32-99c3b6125753 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f9bb0ec-b796-4997-a1a1-198b36585a1e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd6befb7-c561-4696-b36a-f5aecabaab5d phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc81c1bf-ee80-4088-b1b1-19dd16b91760 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4664000a-4954-45a3-9661-e2220e9a3c44 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e230ed5-41d9-4cd7-92a2-1f2489cae585 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e8b3f15-c788-4747-8e4b-c0ae96422d92 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1aaba63-3b3e-4e47-9e3a-42f9d4214ab3 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phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:efcb5747-50e1-459e-a644-6433a1a9b821 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e81213f4-6461-4b9e-bbe9-2601716e278f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4117c0b-6673-4a05-ba7f-01acdd4df387 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07d8f158-6416-4247-8f94-b0177074ade2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c561ea55-a95e-43a8-a273-6b264d5adba8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:062cc4f1-975c-49c1-98a7-08eb343111bb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2418aa3f-4e82-4a32-8c76-7a95df43c586 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5acfc5c8-5bfe-42da-85b9-32cce5b396ae phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43f3d9ae-6ad4-4887-9424-99a25288bb3e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:68986d56-5448-4d54-bd30-5cd6a2e301af phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b068bcf-a1ca-4a59-8fab-387336b4e62e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:910bc6e2-8d53-47a7-bf24-b1ad02ecce8f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b660a96-1719-4d26-a34e-42d2b94a5181 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cbb238a4-17ce-4d01-b368-32609e6b4020 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41503d2c-36bf-4deb-a414-e802b2a705b5 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6d7364a-00f5-44d3-b617-8149ecd12e53 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4999e90f-4611-48b6-ad6e-139573feb2a9 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb78e43d-1edf-4731-8aec-fb476476b142 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e3c9941-c79c-443d-b7b6-23b5c0611d21 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e2c611e-91d9-4100-8f0a-b4819b90f9e6 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f13218b-484b-4bc1-96d7-0c5ab3dc210b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7271a859-a958-4cf9-bd35-c0067cc9b8ff phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23833341-419d-4893-af58-b8903bcb49b1 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dec70f0b-8aec-4560-babe-795ea7389efa phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c49ff79-a5fc-4784-865b-4558573d859a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e8fe953-bf9f-4332-914b-6f7080f6b06b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8fbda88-787f-4845-bcc9-1a3787da0101 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa8f8139-bc5c-4558-9a22-b27602c6fccf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ec66da8-cf8f-41fe-a927-6bf782bbbe11 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e5d1236-44eb-4efe-b0ad-2d4c5f857754 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:133f5fc8-3b08-4dda-84c1-4a54ebd2da0c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eb8dad93-48bf-4426-a003-e619a0a7f9f3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c57683f1-ca89-4550-a4c2-6230b261775a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:4cd080cb-1359-4dc6-a2eb-35b4e0ee537a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cbccf8d1-7ec3-4964-88e6-bc7be13cefb2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c7a2647d-8f76-4d0e-8e24-eae408d64501 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e698a3d-de15-4303-aa21-3927bfeb571c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b8d1bfa-9a22-4c86-bd3e-5e2709e7f007 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28b35e5e-b4aa-4ef3-83c5-56d945758b3e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab9ad2d3-46b6-49c5-aa42-f2d59c3ddc8a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5a6178c-bed9-4093-ba6e-da70ec9a61db phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61b757b0-7489-4c8d-b035-e0378fbad6e3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:279b6f86-3caa-434a-a09b-db9a985f5273 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd34edd6-95c1-440a-9f37-c7f4449c3e90 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8bca7a1-0aba-4cc8-b36e-4a942d311bfa phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60c29764-e8b4-477d-be36-b17c357fbbc6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47634d52-9806-4a05-97e5-105aae439450 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79c318a5-1c06-4e46-bba2-de60f01d42cd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7547e5b1-7208-42b4-b206-9ae4503de423 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dde8d1f-0a2f-48c0-9e17-f18010a67ba1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1e4fee9-8374-4928-8dee-db8a64872308 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c305185-bd36-4e71-8af0-c2f7c3e44af1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fcc7b622-6e3e-4914-9d6b-4250c7c2b6e9 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef578a77-5963-494d-8e01-8997f2a4c9b3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0cd0f1a6-59c4-4d38-988e-07e36b73b7b5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82be7df5-3666-450b-9ff2-c4073fa7c3e7 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eb1d55d1-dbb4-44e0-ba74-678d0a40de25 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab9e2228-70c5-48fa-af88-2249bea5c96c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b85ad980-4c22-4ee5-a3a5-fcf9886ef8ea phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fee0b983-a461-4994-84f8-370860977ccc phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0f08079-a96c-47ef-938b-715575b87570 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9c7f1fa7-ad0e-445b-a257-a664a811db6b phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3062bf93-43c1-4696-b059-d51433f030ef phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:696f8dbe-e5e1-427e-9450-c24202997a6c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3024aeee-6634-4449-ad17-f3393a13297f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40bd2562-1b34-4497-b621-2606f787de16 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0269979-71b7-42e7-bc74-c03a917dff18 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab80118b-15a6-456d-8798-bcf943e12142 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0daceac3-ba66-478a-9f05-8fe5d6e4358d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afa1ed2f-af41-4781-b34b-e8161de0c4b6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dcdd15a4-9951-43fb-a93a-d1ba751d33f4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:170c8a8b-b1e9-4c83-85ac-7342758ac7e1 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phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3ba877f-7077-4746-a726-d28ddb6d58d4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a934a63-0a74-43d6-becc-6cbcbe9a71bd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ff39d2e-f416-437d-aba3-825b8b344638 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:735143ab-5695-4566-a552-8336fc32c723 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3d85f3b-9f0e-4385-9ae3-25aef768a1c6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5d223da-a133-4d8d-8537-82cd19016272 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67ccc7ce-1aeb-493f-8fc5-d2e51e6d4799 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c24a8877-cae6-4136-bdc4-fa0a54f93fc8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:71a65fa0-6531-4774-a72f-abf62306d47a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad753c6c-a877-40eb-b661-93799060b1b3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d453cd6-f576-4c90-a74e-28064b29cbbc phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99e261e6-aedb-40f7-9d1c-9e998aa5bf6a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8f22502-6d5e-45e5-b5df-2cdaf99f4437 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76e5d624-bf86-479f-aa8d-ba09b3a815a6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f7b5f84-f340-440f-8642-3217b23d58f3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65b801ce-a0e2-4f15-b419-a0d8bf0d2649 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2dd1ee84-fb5a-4eca-ae62-aa91aeffbd57 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee333f73-fd99-4d38-9b12-d44c6d3691c4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26b62748-f7aa-4c2d-abc4-3ebb201edc26 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:697ea434-6422-4758-b6d4-779378f1e8ab phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:babc12dd-86b6-4e2c-a348-bc426bdab412 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:861e703a-250e-4713-9c4a-07b1a410c2b5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e9f1e4e-96c5-49d6-b8b5-f7c04c3caf61 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:29b9dd15-1d82-4314-a4fc-ce4fdeeac48e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:1b28a3cd-1835-469d-a9bb-3ee0edb1e8b4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:561717e0-865d-4d30-b63c-1aec534ef625 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e60d1951-7d4d-4dd5-8411-3a2f5efea1b2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:04abe18f-d4f2-4d1e-8109-ff407fff0750 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:70a5fec3-7e00-4f7f-9263-133ffc330232 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:23d16792-01a8-47cb-bf1b-cf2413502b52 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9e58f191-9414-4b36-91f4-6db561272ed2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f5157f8d-5ab9-4814-a8e7-24d46120fb72 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:483e84d4-6ea0-44bd-8626-2fc7078f3496 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb3c6407-4051-4041-8d33-31df44f3ff75 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6819e020-3a46-4696-8573-bdaf599c7401 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d85c81b5-42f4-49fe-9f95-963dcede3a1b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6328f01-cbd8-4258-bac5-ec7164d0ad23 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a369697e-8233-4960-a783-138ad6a20bbd phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:deea56d7-96de-498b-ab9a-614e390ce193 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57fab6cc-d023-406f-afb1-37a391bac495 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df696a4-7469-4348-b348-60bf58c96970 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d3b4441a-b270-4834-aadf-41029ccf166a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e325193-df64-47dc-ae4c-02c344bd34d0 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1a356df-afbc-4381-87da-bab796024d81 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a5345d2-cfea-4e33-a5ad-d1ed926ef246 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3ceb78da-78b0-4b13-acdd-8a8e2fced83d phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afff25fa-f036-4fce-ae0b-a6b74f649cf4 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b27cefd9-b99b-4f4c-86cc-b39d2f2dd5ef phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba40cecd-58f3-41f4-b93c-b8fc5f46522b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:362f626e-da44-4561-a021-a6d023124d63 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc383e5d-7980-47e5-b1d2-c3161294b893 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa466ac9-8043-42df-8c33-6e52ea3c22d8 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f6705f31-b6b7-4591-96da-831232e34228 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bdeea24e-8666-410a-9a69-5de01d03f952 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5263865d-79dd-4679-83e2-f02daad5de6e phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a5b15ca-0088-4fbf-8668-92ec15ff2b0c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3caaaf9f-875d-49df-92a7-05b96169a5ea phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c93e193f-5c69-4206-bed6-c1f10c36940f phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5476c20-9379-4d49-bcfa-c08960b87cda phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c268f688-689e-409a-ac4b-f7f9ff719964 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84678614-f40e-44bd-bb44-0bf084539dbe phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d14bd79a-dfac-4543-8edc-91c1fdae1837 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c9b31e0-5a3f-4928-a65f-177010a3710b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e02535a-89f1-4b8a-b4e1-95dad1d1bb91 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e742114b-2c33-4ae0-8b92-1ef6f85ed05b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a6476b44-10a6-479d-8598-032bdfa2ad78 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a65e3746-389d-47a9-a52b-fb4b15544f4d phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80548afd-7d90-4658-9dad-7fddaed55848 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54055f6c-ca2c-4989-8fc3-35946a84ff9b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7eae7ef7-55e7-4580-9dda-9b97c1b1c37a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afcd1e36-a466-4be3-9a86-82832beb3718 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de3f4955-9df4-4c1a-bb0a-4632c5ef81c1 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phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15130e20-398e-4d4b-8650-13894ce5c949 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:091a9a18-f813-4eed-bb3b-113f1ad6d65c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39e649ce-89e6-4edb-9f60-fbb876114936 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2175cf2f-ad98-4a6c-8e4f-14d0c2ccb686 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f238bbf6-c584-4158-83cf-b5d0bf193139 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0b902d4-47b2-493b-b5bc-9d53a1896a77 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc1a580f-b591-44c5-8bc8-84c38ecae941 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04f17a2b-9187-4771-8b53-47787c68d388 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a44acd0c-8006-4e53-a7c6-2f4af0400cbf phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93457e91-3c98-436a-9d0f-0bb3a416ee2c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75c6f892-5660-4313-be1f-2552035c66e8 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:633ba141-08b4-4173-82af-9fc3c5ac0f82 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5279740-6a71-4570-8270-951015b24393 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31a901af-09f3-47bd-8a27-1c6998d75941 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a92e993-2f6d-465d-a8e0-e3584e72ff76 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1bb83b87-bcca-4b0e-a262-2f242d2ea1b2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:148aaee8-4444-4dae-9bb5-7f73bd5f24eb phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8fdef41a-0026-4146-bbb7-123418b9aa4a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c4a65af-b657-4366-b82a-9a1e14502e78 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df13f77e-2c2b-46d5-b53d-9a769f437523 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34ea28f1-d588-4253-8695-2edc6bfc986c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:cbc017f1-6c19-45ba-b634-6fedbf44c89f phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:85f398cb-d8fd-4b6b-984f-627f6e31e64e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:41fc4cfd-6e60-410f-964c-0219cf65514d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6524f11b-cf02-4012-841f-db36b1f8a4f9 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a7d53fb2-1569-41a3-8392-378ba4620692 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cc2d801c-d824-4250-94b9-4f1538aa4def phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e2515bb4-2c21-40dd-a0d8-5873b191e2d1 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fae5cbaf-a18e-43f5-bde5-4966e2f74b64 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:64970705-0623-488f-9969-6b589f259d32 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a8377fc-4e4c-419c-b315-87ba9e0f03e5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4300be7e-8163-4df8-b5ae-ec3294acc329 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2758250f-e6e4-490c-bd29-788cad60546d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1544b2fe-298d-4302-a754-249b18ece8b5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:471ef311-b02e-4f71-ae43-44c70442a3b4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b57d8a37-2ebc-4024-9c56-7b2bb19cbc4f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f45b89c-d47f-49f2-a3e9-160d1229da9f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:62e2162d-8876-4a38-bb25-b1ce417a23ab phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b9f083e-1301-45f1-8c51-88bf81ec7698 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c543c13c-6e8b-4468-b93d-7d5c4bba29db phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d4766a5-8978-4930-978e-f5f74c173b0d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5350573-28ea-4740-98bb-a57bdd8f56c7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34e6718a-8789-4551-a047-24b8ecaa1fc1 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9d9a8a4e-a3e0-42cd-90ea-7c42759fc054 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:798e1c0f-2e09-4ab9-91c6-7e0bd6532707 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:318b61fc-01b2-4752-9be7-16f845117c22 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ef7d0da-da9b-4f2c-a2b3-6c6d5a5bee4e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff8f9d42-843e-40b5-bb41-21e03b48686d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1f6a378-b7ea-4d79-a529-b5cf78cfbd8b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e42d435-cfd6-4005-b2b0-4993b1d2a894 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd841a76-549a-4712-bcca-a5bc96c7bed3 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58cb655e-0596-4f82-b0bf-5975c3c36c93 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec58cac5-d113-4e00-b3f9-c850b3bf4d42 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e67c7188-81cf-42ce-993f-be109aa8b9aa phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:49fde14a-5584-49ed-9fd1-c34965ba6383 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04aca3f1-c017-44a4-acc0-567d7ef72bd3 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df2f4c78-3738-4b97-b93f-02b2650ec359 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:090097e4-723f-45b0-aa1f-0935a47ed534 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b80a02-6aa6-482a-a3b8-49e1b7e8c594 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f4bdb17-e406-4ac6-8863-f9d1bd7eadab phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:02ae4730-3cb6-478c-87e3-d6247bce617d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b95c9a23-c9eb-4f59-bc15-22c2bed5da5b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3686a1e8-4504-4219-bcaa-aa676f1a9e7b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37b38f83-1b00-4249-9d1a-eec6bff2d8c7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb69d13a-41a4-4bd8-af19-1911f8cc5dd7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9632887d-1cde-48f9-a16e-559214fdf1b6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9594865a-6015-432a-8039-aa12f6285ece phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f85cb9b8-c78a-43ca-b4a3-4128d4b56b99 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46ee1024-e111-4974-b116-001fe166a0fb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a22a983-e0f3-446e-b5d1-0cb42a2a0a5e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e1332fd-6e5c-4a3f-9981-a77c5169225c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0ee3ba0-197c-46cf-96d8-e0a22c2a9774 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phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08bbb202-3f06-4eb5-9c06-4e058a69e909 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3ae59700-e0eb-4286-bc81-5bf65a2f66ae phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9eb607ca-8d11-4eed-83b3-55296601a1ae phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4d1d479-d044-4654-8bbe-8e6249309709 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0ce3f0c-b5f4-4e97-b8b4-c38d5aab1681 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08b41cbd-df3e-4533-a949-9261833a782a phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:03017b9f-2695-456e-aa01-9495054e9029 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6516d887-18c8-400e-9ce0-91aa5c28ecb6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4192bb1b-3ae7-4523-97a7-a0522865efdc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba671388-2e6c-4956-ab50-7a5be20fb891 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67baf848-b0c9-458a-a70b-e04ebbdccd3f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf3731f0-fd53-4679-a735-01e3b20587f0 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f130b42d-e788-43b5-a668-0ac1bb5496c4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cce584c7-de48-4c49-be15-cb55b937f625 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a014673-6238-4ec5-bcec-7eb1fee52c1b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c431895-0a5d-4b97-a7e7-7a8f4e053043 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1d99da1-f600-4d44-af38-bcdf48339327 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ddced02-fc22-493a-9566-d0d0d578dcc6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e21f7e6-6be4-4ae1-bc8b-b9ef879c3217 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae9c0748-dca3-4e25-a2b6-2affe9babe1d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:99d6a09c-10dc-4324-a0f9-c5018b882296 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:936ea95c-8c84-41e6-b3ea-9f7af35dabd1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f5c810a5-9ca2-4ccd-b7e9-2418f4f95975 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e0692f8-f58a-439d-a4a4-d45af521db45 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:36833199-9976-40cd-ab10-3e33dd144bbc phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:38192384-52c0-4399-9650-afbbd77d7e5c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6183b9b2-be58-4236-9e99-5a4e0e0c78b2 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:026edf8e-ea75-4411-a190-a46038474b88 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9045a2e4-af61-4086-9f6e-c4de9494b386 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7ad7f71-53f9-49cf-819c-d37b965c84e6 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:90db8b8e-10db-4d4f-b51d-89aa59d9b36d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e3d6b179-669b-4fe7-addb-9fd738f553c3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ca61923f-25b1-4824-9721-0210313330bf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:08f463a7-6a99-4c69-92d4-e501ea84122c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:008545ec-68f2-47ec-b149-84ead09a6b11 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6758216-1544-451e-852d-750079a77693 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86e5ed1a-085a-4106-a4d6-221ab1455c8a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:214ed142-1fe4-4e4f-998f-6f22bc8292ec phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:49c20c35-50d1-46de-bfd9-f78f3e21b80c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:848afc6e-09d8-43a9-a1ac-b6b64f333540 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:999aae69-fe4a-4db3-bba6-d261a87b193e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c71a210d-61ce-4e2b-834c-0a0c930d0a6c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f7d7340-6888-4642-80ef-00c542ff3251 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c72e2c18-596c-4ce3-8e48-1fe427dafefc phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:172e7f2c-4957-45ed-af98-cf3a32abdcfe phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bbe0f8f-4544-438c-948e-3238c6fe3021 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0eb6e535-7df6-48aa-8c28-ad0f76c42066 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72099855-a34d-4922-bc44-7e828b39ccd5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8543b597-a627-41a6-b149-fc82934f8a82 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0c970d3-3171-4527-9611-f13d03122f02 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4bcc5c18-0f57-4ee8-bd82-1dd4a4e9defd phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bcb26b6d-1763-4ace-98b7-88c08758736f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23aa80cf-8625-4866-8a0e-90415650d5b6 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60e1867e-246f-4ceb-87b0-59d95af7df6e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1700aa5-7489-4e2e-ac78-2413a8c2ddf9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f4bf289-f733-431d-a2bf-e3d43aba36b2 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb4e52ee-9ffb-4c91-96ef-fbe455534ea9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30578af4-369f-4c86-85a4-32849e92e226 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39495a69-1eac-4c88-a1c4-66c7e0299d9a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2a8dba9-9c09-46cd-9246-d3d46bb877d3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f261b5c9-b040-4d9a-8d94-9e6cc09bd117 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a72da1f-ccec-44df-ad57-60d3bb44b29b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97f0bccc-b7f6-4909-ae5d-8855e5d85a1c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa77935c-9543-415a-86b8-66802036bc96 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a073e8a-cfd7-4ec0-b4b6-c85cc130805a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7e6514a-5d2c-4877-8276-bd7459e3a273 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13a98293-9e09-4353-accf-b985e55340e5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37933018-a511-427f-8954-2687c4e10c5b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd17c69e-abad-45d2-bc04-e735c4643e23 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17114189-8ac4-4fd8-8044-7cf8365292b3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d5d07ac-8864-42be-84a8-dc280eb6119d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a28accf-627c-4a1d-9230-26605a463f8a 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phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba0aa8a3-1ac9-4f7c-9750-8936159eaf60 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47ea9f93-60dc-4b2c-bbbc-4871dd129e40 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b20998f1-38d0-41ed-b49a-e532e9b825ab phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:522aafc3-fd75-460d-8e9f-f07ca794675c 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biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:045dfe42-b680-4312-90d1-fd04394d9994 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b6b23d3-83d4-44dd-bde5-f01b68507e16 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de7eea27-5af8-4e09-931f-b33621a7068e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc5896ed-f59f-4868-9516-a72b211d67c8 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:19152643-375b-4320-aa7b-6f44bb91d2eb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36a2c4c5-0806-4bf0-b9bb-fef5d1638066 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28cd560d-43b9-47f2-8a95-728b99ff137c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e87de3b-3661-4496-8527-36e750f93f1b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a337f8ea-1dcf-4741-908e-ecd6b2f72e99 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56c05286-74ca-46ca-aaf2-4ac7f4a79efc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0176f058-7ece-4273-8af8-1b1c15e4b6b5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9b87561-0239-4972-93b3-2b15d8e35488 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7522e0be-e753-4c35-9019-d43bbab1d988 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:564fc36a-27fd-4bbb-9927-e56fb149e99e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0eedd2eb-4331-44f4-8731-1b235bb3aecb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d6bfa94-f676-4175-872d-133857ae0f7c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87970452-5201-4d82-8981-a0514d703777 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93691b8f-f82c-4c64-b28c-c3ac023253f5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51e0a5e9-312f-4131-ae3a-37d73bebcbca phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a87ba7e-fbae-4e2a-a85a-34a4d4c58e6f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb82b519-74e8-4925-82f2-bea9070be310 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a393e66d-9002-46da-a943-fab17ba95016 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34cb80b3-4613-44d2-86a7-5293901d0c18 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f448a7f6-145e-4420-95a5-20d512b8d348 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd1c1e2a-96fb-4aea-8cef-31ec62eb0a9e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96cfee1c-2bb8-4c6d-8c19-3674ab78e286 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f30cd48b-a0eb-4175-bd76-a0c9ddbd55b0 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90990efd-63f8-419c-bbdb-7a4dddb7aabd phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0564e38f-8b20-4b7c-a2b5-12e41304a5dc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:382ff7cf-cfcc-4700-aba7-ff7bb8dc0c8d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd144624-60a6-4842-beca-9eba4b14739c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c2eba66-2450-46f2-acf2-120349cfc06b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:575ab456-0f08-4ec7-be24-593d55e22717 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55e5cb00-fbd6-410b-9670-d16faf084092 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a7fd399-76de-4bc9-905e-f2e111e2457c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ecd097b1-17c2-404a-a720-35a30f21f032 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:066e66b9-df0f-4431-a69e-215eeb867dce phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2758ca2f-db5d-46f6-8aa6-faa38df06b95 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a88f803-0b71-4036-980d-f248b9f2c2e6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2926b79-5464-468e-ad9a-1616cf9fd7c4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7be41e3c-f9fd-4a9e-97eb-cf1108fba433 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bd108cd-a6d2-45b9-b8a8-06ed1453d874 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fcdc99a-bb8e-4f3e-9bb8-b82f1046ae57 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f2c57ac-8a97-483a-94d1-fef30b97bc95 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 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biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50651116-890d-449f-8e8c-bd590accf983 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a703b64-c509-416f-a49e-6161cc4c50cd phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57722f59-eee2-443f-9619-33090bdcface phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:542fe831-81be-4ad4-bacb-4832ab4862eb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e853ee9b-439f-4690-8f99-9d933051e061 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:9f8cdddf-08e9-4ae1-89d4-e0b64b24846c phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:44188123-08e7-4596-8e46-0a3f0a471698 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:20c2de8d-0b18-45a4-9975-b6253b2f2bac phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation 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phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ced0537-35d1-4e72-877d-33650b00d922 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73fb955d-a41b-48a3-8a0b-0de423e9cd9f phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:233c37cf-6242-4766-8be8-de2bb13a7ebf phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a02495b0-c068-4652-b1a7-0a6f9f6c1f47 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7736cd86-4e27-4e77-bf72-5f216b08c4fc phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f5d7d93-3c1a-457e-aaed-6899d62a9793 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8526ed0a-ace0-4a19-9f88-03fdfe69e0f7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:103084dc-4b61-4802-b726-43593f9dc2ad phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c59165b-8a03-429c-98e8-7791ae0af815 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86bee31d-31ec-4365-8c2f-27e6da592ddc phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a3de4fa-82d5-4fba-beb9-e79850961c89 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9348dc11-b656-46c0-a472-f4df34d167c5 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c398c33e-10d7-455f-beaa-40645c53ab1d phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1519d43-f685-4b90-91f3-e6492bf3a2b7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0893b93f-8f73-41c8-8fa5-91e2cb3d734a phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdbd6938-60ee-4f10-9912-ff4a20795bdb phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:28ae87b7-1611-4d9c-a288-702f651a1a90 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:bdb83444-ef9a-4449-9125-f0d4ef3458ef phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:68f59ffa-0a5d-4e02-a1ee-22c570fec2fa phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cb46ecf9-8ee2-4538-b19f-5d46d55e80fb phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f3600d4-eb0f-4868-b999-b7ab6059ffb9 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3c10d1e1-7064-46ca-9311-146ce4777d8e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7ffb0ab6-47e9-44e9-9de9-3de4a51d426e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:607d09c4-c9bd-470d-a698-d584ba6b0907 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:418cf475-f890-44b7-9383-3d401a84b748 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df6f3c2c-b150-489a-81e1-75b8a251d37d phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8d3aa695-cbb1-4d35-8f84-6886a0919fc8 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:703b2832-bc84-427b-9f44-1f0825438c36 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:80c3b4a2-293e-4b3a-9ada-a0e3a47e9483 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1075a36a-5186-4fdd-a502-c9b78b719a5a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f6f2c92-2600-4fd2-93a2-38538e427cc0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31a116c6-2d3f-4df5-88b5-95d05c0ce42d phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c0cee2e-dd22-426b-b32c-7d0dc9787030 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c5510e5-d889-4ac7-8842-49f9adc910c7 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5860ec28-d3d3-4f8c-94b7-5d11b31f5dac phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:caf6da77-aec2-4861-963e-2a3688a7a3ef phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9625a0e3-8c34-4a00-8a03-7fb94b5e71b9 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f9ff54ce-6533-4de4-a385-b57504497e93 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:866eb3bb-900f-4bcd-b0a3-d3e4210b8e2e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a85075f1-e51a-4e49-9a5a-ff07e882d46b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4b16572-7c9e-4da3-815a-4f96303e244c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2825be75-146f-49ba-b9ef-3511c8b0bfee phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bcda2e3a-d3a8-411d-bcd4-ac0dae6cb952 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f43a5ae8-6a02-42b2-a05b-2ddae03ac167 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:036109fc-7f6b-4cc1-8b0f-20361a0cfbbf phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f5f0227-9236-44ee-989d-a3af37f8860b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5107dcb7-1357-43b3-a756-1719b6c894be phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cae473cd-8abc-4cbc-ae5f-3ba40f27f1e7 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4455d485-c557-42f8-9ac8-011ccd5be2a3 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7c14c64-1ccd-4dee-9ec9-babbd7851518 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70a234e1-c574-4722-a5d8-ca586bc3eeb8 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9959f15b-9456-4826-887a-033d4144b695 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1980821c-981c-4989-9cd9-d818cc2944a2 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f70646d6-862b-4694-9711-70a38a9dcf62 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15a2f227-ab1c-42d9-881c-a1e8c5d791ed phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2d93298-dc32-41ad-b5b9-845d9713ad5c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ede730b-639f-4d2f-b0a5-03efbc427eaa phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd315852-b06c-46e8-aff7-1b4738a527ee phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:12bf6df9-a48f-4a0d-8db5-2ee77f759218 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e849729-f790-4f72-a330-2b008900c61c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7bc80f7-c4fc-4e45-a578-81c9c0d52428 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:489b3e48-a238-4979-b90f-fbd11b02a393 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4efcdf7-5489-4184-b7d1-c6ee94b35c4a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1bd845e-bbab-4927-b117-e4acbdc17ff6 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87ab3c9e-cc34-45a1-9247-b9bcae067b12 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f1b8382-5261-4aec-bc25-aaa9344502d1 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0c2617a-139e-4fda-b4ae-eda8d24dccfc phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:770bee51-aeab-4c65-96fb-2ef5486b497b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7d273bb-913f-4ccf-ab5e-2f066124fe88 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc08d392-9c6d-41b9-934b-fd0b0494d051 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa1c09c3-4504-4c06-8cdc-81fbfd83f16a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:935ab364-2403-40cd-a1b4-bfeed40930b6 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phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:24617d99-152a-4c92-9c4f-9ef743c33ba8 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbd573d8-1f83-466d-9625-e716a1f8d0b9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea597849-b720-49d3-a39d-6f445c429c3c phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56013b09-eb75-4c66-8afc-c55095a34549 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phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8c9fd62-ca6d-494b-b259-4fd2b934d1c7 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d36f8d1-ff10-42ab-b43d-0e7fa5783b91 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f194da7-4bfd-4e91-8f12-5c8fe632a1d5 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6586b544-d746-4f6d-8105-8f58c5e3fa3a phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f296c95d-9b9a-4ce8-8b32-7227762199f1 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f07b6bcc-1147-4c7e-83b5-9bde78080bf5 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f7bf3f2-73e2-4217-b47f-8739e1752abc phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f32f78d-4ed9-466e-a744-03e4f96573f6 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99b6bd61-0d71-4255-83a5-82d575c9fd26 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a234bed3-8ff9-4c73-bfe2-a0699d6fc4fd phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd640d49-a5d7-4aee-94fb-b1d368127824 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afef8b29-d329-4c08-b4e1-f970d7d2ad0a phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:408e31bc-bee4-4fdb-b121-c2d5eb2c4ca9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:367c88e9-8454-42df-b9c8-bfabf3c7dec7 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a790178f-d279-4820-a49e-e927a642c197 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c27910b-2570-4741-ae94-57787dff6118 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3c75d7a-f7e1-4476-b203-e96eba9b989c phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8890bc0-5301-40fb-818e-4f79220578e1 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97c9cd5f-63d7-436e-af00-d5ef150c4a53 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d16b051-59ac-49a6-9971-52101d3f28c6 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67511343-2f16-4689-9fa4-d7bf9ed6207e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:614c5b8d-9a5b-4a96-920d-b861f61eeae9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b65600-8d10-4595-900c-6bbecc9e5f75 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8bbeb3bb-1450-4dc0-b329-220afc8f54df phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4071675f-d272-4ede-856b-210091e07385 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd35ac75-a2df-4452-90d6-35ba30c21ea8 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8590b2e7-c2d0-400a-b0e9-bf7c37b606a9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ddf35af-389f-4adb-ac65-4f8cba099c1f phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:042ba77c-83d9-4f5d-bad1-6f6f03164214 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0efc837e-bd77-4787-ab80-238b0360950e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:98587bb6-b093-441e-8808-5e61b282cb32 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a7623b9-ec31-496b-8098-ad0ed68bbd11 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4555f5a3-7808-4155-a74c-827a913d184e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fa8cf38-53f5-4799-8516-05f2849ab826 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:3250909e-40b8-476d-a562-d18229ae48b0 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e1a6f622-436c-496a-8d9c-eb91ebea1cc2 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37951597 uuid:d69881c3-288b-4b4a-97b4-27cbbb2b650c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:79661e0c-1a59-477c-8dff-44a22eb87a46 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d5925d11-12c2-45e9-8909-7ed623d221b4 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d9f86abe-fa74-48b6-b151-9a2ec5edbe1b phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df03c80e-805d-4792-968c-796932ae26f0 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42f99143-3c37-48d7-a564-ffe2772f8d4b phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7a85dcb-8716-4276-a5d3-1e97ff8a811c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1808e3c5-4788-41be-b0e2-43588ee2f219 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd5ef540-3516-4454-a352-6df0befd1cb3 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44e63672-2630-4564-bab9-e00c839396c7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:301c1a2f-5836-4941-a96a-dd36423be378 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bce21b38-f790-48b5-8a19-1c9a0502e41d phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57d17936-472d-45cc-86f2-687d81a7a9c7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c235cf6-5db5-451d-81d4-aff59373b096 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d925a3e6-a1ee-41db-ac01-3176b44cade1 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b3ce4f4-613e-4bb4-bb59-365585b1b1a5 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:038151e8-9eae-4535-94e3-43fa802a4304 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:29b49f00-5279-48de-8e17-e581da3742bc phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a763ed5-ef1b-42c6-b106-214dc96e9559 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f95e5c7-36c5-4fba-b704-918ac77891a2 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a350110a-7276-47c3-a077-738024c087ac phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d2ce035-1366-4c32-b0f5-0f90f87b3c66 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d247d1a1-c7ea-4c36-be90-e74c2eb7f760 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:202ef18a-e77b-41ba-b52c-7892c7df9c98 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f743f9e-cdac-4a81-86ba-d6bfd88697c9 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc976fe7-1d07-4dad-b4a6-ad58958ab470 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63ba7ac5-f152-4641-aeba-eb6e199320b6 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b9a4ffb-b5fe-4ee5-9b3f-f3237d51a6ca 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phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5ea5c6c-4eb3-4498-95ac-48c9054d505c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f8b01d4-c2e0-4bce-913d-a1f7acb3d319 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7953645-1099-479f-a6fa-bbe4fa15fa76 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc385cc1-8030-4a2f-ab10-c70a5bb128bd 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phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac5ed0b4-7eb7-4f5e-af1e-d226700156a7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb6fe006-8305-4b90-b349-9b09795c30be phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1449999-a72a-4ff2-b846-dac672cc852a phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a018d914-8bc0-40e1-9764-da4730d9e344 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf73d57d-4ccf-493c-926a-1fe7f7e9bfe8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d7bbc79-603b-433e-a680-069e0d9c50e5 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66b586da-07a3-4ec2-9afd-8241d2acf1ef phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05f32496-14e3-45fe-90d9-5d2a596e4b38 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biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:24736e58-b452-43db-8542-8b0f0d099496 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ee47d383-95c0-43e5-a3fd-7b4cf122115e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:01eeb966-7959-42b6-bc80-bcddf5b4b594 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:26b3fd70-2bfb-43c9-b100-e014b88e576e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 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biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3086e4e2-ae79-41d9-9856-70099649332f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:db26028f-eeae-4343-b77a-a98d286cfa8e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:99ba3caa-38bf-4288-997c-2d824c793d8c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ac04af6-e51b-439d-9312-ee31c8c2bdc7 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7961770b-48b5-42d8-8c20-fcf78b6fcb86 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d6ab60-d0b4-43c0-b38b-951f1a3103f4 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fda322e-9917-43cc-956f-50ccb210a00f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0bd29cf7-dcc8-43f0-b028-b5eea4522f29 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e4e32557-802d-43cd-8bfa-f664c2f32c06 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e70ea979-0c54-49ab-80c5-d4a679bc188a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7a132ea-0b63-4390-8364-a079d2009483 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f73869f-2f3a-4542-9ae3-a9ee74789818 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:625c6f03-389f-4327-8c11-40e17114e943 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f2e1fce-50b5-4ef5-95b5-37d326f2a2f2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f8350cfa-7518-44e9-bee2-f05f6ecad679 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e93a481-e92c-431a-80b4-56594d3012be phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d898f0ee-aec3-4fa6-8487-9e9e0083d44e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e697411-3e7f-4fa5-8e11-12bad22d9573 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1616e65b-a946-4619-9c0e-c3f2533dd467 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8201cc54-6567-409b-934d-348665c9a09b phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a17c2e81-f4e7-43d1-9440-b431d884c1e6 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:199c0517-7a28-4591-b80a-e05c82d71fbf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67bd4cb9-18f4-4048-9a70-87e41a747db8 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07e7c27e-ad54-4941-abb2-6945edd342c1 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8ea65ef-ebdd-4bd8-b8b2-8ca7a3d79670 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73b8bd6d-2833-4bfa-9933-f8e3dc2efdb2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87944329-7eab-4292-80b8-90c5dcdd201c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d4a8a00-0b14-47a6-b1c0-5386d3bfbd6a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 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biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:523e5cf9-5ba1-4936-8c9b-829733409ba3 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45b9c11c-e4e8-4ff8-845e-2f17ce220b09 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47b11b63-d5d0-482d-b56f-5c74d3caeefb phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f77947fd-1359-4ffd-bd34-39b35fd23e0c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 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biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a03255e-60ad-4c2b-992b-bcec52002d10 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66e9567d-4915-420a-80b9-d6d02670d647 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec34c9cd-7a32-4894-8c6d-2345c7bc4215 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4c0b86f-6996-4a57-b10a-eaf97ffb6550 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ef2195a-e5a1-4d95-81ea-ff32897312b3 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d3891b8-7ed3-420a-aac3-736b06b37fce phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cc44c1a-070f-4eaf-aa64-34cf3020fb8a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4000db3b-9174-4b7f-9b01-6111bde251e5 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4f442e54-0fcc-457a-b379-7b670225e9aa phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36b18661-2c30-485d-89a1-f38a7d454a2f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:493973d9-4a27-491b-be02-5c2bb4137672 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e20a8ebc-a3b1-495d-a494-ba5c5ae7d884 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37951597 uuid:9c1a2a5b-4808-4c88-ac65-bd5587d5f73b phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2a6dae51-b287-466e-ab7f-3502b8fd6e59 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c05e154e-6667-4cad-9114-649e1118230c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6cd857ac-5cc3-4dd4-9429-feb6e3205776 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000219 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6de90025-38f4-496b-b9c0-c0363651e700 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4023d87-2a7d-452e-ba67-590b1d33c081 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a52475ab-85ca-4bb8-a9c4-b671b5004f1c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7a6c3a0-c8f0-4608-84a1-402bdc2660f4 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3f5d8bc-0a43-4feb-b268-42edccae38ba phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af7aa029-714f-4b70-af5e-a359450d3cc6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dfe06e89-b77c-490b-be20-54b36a79b472 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:115a16d7-55b2-4906-b8bd-77ce8d2a2078 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:514cb8fa-6621-44c2-98d8-403375bf4652 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d529e2b4-b2da-409a-b020-4cfcb66b3b30 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fed698b3-ee5f-4e59-92dd-c682a59ae7fa phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72fdec8e-15bb-4c1e-a0bb-b177177bbd29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35ace385-66e3-4c05-97f6-f60ff9b8870f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1dea664b-e380-43c8-abcb-f4840f89e79c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07dc0f17-2b09-4b4d-835e-9a4b12182cfa phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ab85810-646f-4f83-a88e-f9aadd732169 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef25f147-92fc-4200-abdb-966d63c90531 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67874c57-72ad-42e5-8154-1665e8b07a8c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72be697c-aa7a-4397-b0bd-516aa7b5d937 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6402716-e3b3-4e90-aef8-82a2bd6ae6c0 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5e09000-55fd-4915-8aeb-7cdb4eca186f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1ef40d2-2533-4de1-bed4-51b11fcb393f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8975e6df-64a5-444c-9f15-b7a458b355d3 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82c81b91-6c16-4c85-865c-6b967c986f29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000505 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f449b8d-b875-4fb8-909a-994221a91c15 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6fa688e-0800-4f0e-aa6c-63e272fd9c5c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e35c894-805e-434e-a548-cff07437becd phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97c2f136-edde-491a-af64-b2519a78ea86 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000639 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e37aee10-a708-4765-b2ef-8ac774ef3fcd phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:361866ab-63eb-4a6d-9b5c-c750f2883266 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db47f910-b900-41fc-a5dc-fc60a6da35e6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7aa74a11-fa37-44d3-9b4e-31d3217ea24b phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97f1bcdb-b749-44f5-8966-4ec648ccf1e6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33b457c4-8c41-4848-80ce-5b522d397e7d phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac427fe0-797d-402e-97e1-e12bd787a008 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:16025d11-d602-4a74-8136-8851c933017a phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4456742c-d6a8-4415-81ae-9edff510bf07 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a91ce416-5d46-45cc-b461-7b4c60b33b69 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce088759-dbce-4eba-b305-d8ebc10bd048 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a88c35d0-1aad-460f-9011-2929d0259e29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e24fc052-303b-41ff-b486-729c8adc1429 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41ca0923-967f-4e3e-a598-8f5531a942f3 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b48c6574-1071-4e35-8164-5a4474c17a70 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:234c5d82-a2c5-496c-93c4-1e5d0b4035cf phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:8966c98f-9c5a-469b-8384-60419d8e1959 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:78543b81-6e5f-4761-9d82-c63583a40c2c phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3f35b269-93f1-43b1-b1d3-936286498b41 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb08a32a-3c32-43aa-ac5b-acd98a3328fb phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1e9d0581-5e6e-4cf7-9775-1b443f181ebf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:00a35d9d-b2ed-451a-a272-25e1628de0d1 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df54a0e2-8de2-4af4-b4a2-6bc97b18d24b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:151dfa78-b260-4bf4-9872-48b3f0c38efd phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3add0e47-01d7-40b7-b046-ad93eefd2fd7 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4977f993-d427-4859-bf7b-f34d25540b8f phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7356b3e-aab8-4a56-9680-90d3d5d10813 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:be1902d1-0517-4093-8f68-f71008a80c89 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:159024fa-2f83-4fa0-968b-d76a74d127d6 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c1fb9a32-c351-4702-82c8-583956e116fe phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:afaf2607-02b4-46e4-9790-64613283967a phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3a44f77d-9168-41c1-ae93-0647c50a1a8e phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e0c698b8-c919-44aa-a565-b737387855f9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ab68cd0d-ef63-4f53-8c1d-938beb158940 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:389ed438-0c9e-4264-8eff-74c21fdba009 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cf934eac-f3bf-40cc-9fec-15352a8a5097 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adb3ae9b-9004-4ac2-bdd5-09ff074b7ef9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:039ab664-4d9c-4e74-a533-b39b1e873616 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:777b94e7-83f3-4a2b-9e14-9d52dbdcdc98 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c7ea333-ea61-4919-bac0-d0a54b6b34a3 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e252c8f-6399-44a6-9a0d-8bee3bad6b0b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0af1810f-004e-4a0c-b333-0d318a40fdc9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ee2ed25-9bb8-41b8-9d80-5372b2c08ff8 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c356ce74-3e85-478c-bec8-fd16c67dae90 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c70d740-5627-4317-beda-ebbb4286c6d5 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9234c59f-143d-48a4-bc15-c630c5eb88ac phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9acafc51-9e19-417b-b7aa-d5c46e314980 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:434eb254-e17b-45fa-8697-993f1ee134f2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27cc1421-223f-4892-b7ed-4fdfefebd5be phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:368e5212-f7a6-487d-b1ab-19ac4b1acaaf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c5b0761-d58d-4261-9b41-97ae16f41d01 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d25b6b14-3fae-4300-b2f6-62927ba90ba3 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:234ce76a-5957-4e64-9e47-6b9e30663cc2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc17219c-9fea-4942-8463-605c3a45493b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39e3003a-9cfd-49ba-a1e0-502b2a5d4808 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f471d0bd-3571-41c6-87e6-b4d10b2262b7 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:be994ab1-3428-47f2-b63d-e45be2055424 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70f8ef3a-2f84-4c70-8292-1c2611de94ab phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61e0beb8-fc2f-478b-9427-5536a5a2a8de phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd81c96d-5581-4df1-9d6d-ad9ec9ab71d8 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fba9a7da-3b18-4401-a1f2-9cfc9fc462ea phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c53e7c2-e31d-445f-ac72-89799bb5f03a phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc5819ec-3a7f-4fea-8aec-5e58900df3ae phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c552bb7e-19b9-49db-931b-cf160db2e648 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:98e5e223-23a8-4ca4-8d59-72fa4a4a8caf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77a47156-c70c-45bb-a63f-d5175dc9aaba phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54b620b3-d5f4-4563-86bc-dcb189e1b479 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6d9bd03-04e7-4293-8dc3-393edfd93388 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20dd3172-e546-487b-821c-125f43164266 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6ec4d92-b920-4514-9eef-e042d6fedd3c phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:88d89156-e2bc-4bb8-b0f7-0d56e9c1c7b2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cda89bf3-0d78-4b80-acba-28d988e419d0 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30eb34ba-d20e-44d0-a2fd-d3077cb4839f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07da293c-9cf8-4da0-b6a2-6efb8b4de970 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47807c4b-7ff6-4c40-b636-415c8fee89a6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:726a5032-4cb8-4c5e-b8e7-87949d79a1c0 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ebc1dcd0-bb5a-49ea-b75b-65cf701c379a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:649d3b1a-d017-4718-ad97-3579fb53169d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47f54cc7-5c87-4f60-b3b2-869c2ae733ed phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd3a730e-8c26-4fa3-a65b-4125b96dcc56 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6693d74b-425c-4d8d-84d7-a09dfb444707 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af4e4374-a58f-41b8-9fdb-4df8931eceb1 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d9c27204-2ce0-41ce-8bf8-7ff0e587cd68 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5a2894c-3b91-44e0-9d73-903e0e761cc7 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b494749-0cd7-4075-8c29-487652aed079 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd6a4e6a-fe3c-400e-aa16-07199233be9c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6204c39f-82cf-4ed5-a3fb-50ea22f312f8 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af31c0f7-7c5f-4226-89f7-3d89f22d882d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c31bf28-cda4-4515-9a43-4d66d050fbe3 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf59c731-92c5-46f9-8274-809a1c80bd8a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba69836c-3304-4d23-97a7-944f5b0dddaa phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e08a3b4-b93c-4234-a360-4f116a1aaf92 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f32dea11-b897-4b6f-84a0-f6ded15406f6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff801623-1668-4eee-9da1-2af27e99a6d4 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06d8a3b4-dd7a-4213-9392-8a3c034703ea phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b81c20d5-23f2-4acc-8d20-c5c6eeebb548 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad3ecb78-6b80-4907-a9a2-e130dce52c91 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d80c349-68a9-41a3-8f4d-8fb16d4cefd7 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bae39cb7-ab1e-42c6-a8b4-517838200b9b phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a9e5d72a-0b24-4faf-ae52-1330d2d81d1b phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec2f94a1-7757-41fe-a7b6-1ce88b68d8ea phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6746c6e0-3802-44d1-ad2c-f2e5a2986e0c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bde9a5ca-ef35-4ec9-b08f-2fd3e6611935 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14278850-1be3-473e-8512-0eb5a6deb780 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3696a01-bf6b-483a-bd30-7b017eec9775 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff337cb0-a6d1-423e-94c9-bf18fcdfba6a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:becf5b2e-a3fc-4cea-8278-3a6f9ce9a9ed phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f4afeed-d954-4cb1-8030-f6617a63136e phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60392176-385c-4780-960b-16e8c0cee0ca phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76354cbe-49b9-4b2b-ac72-f77920ed2dfb phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:738fd792-c4d7-4bb6-a5f9-1f7bf84d877f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5fd2308a-8334-4581-a6d2-88d1108efb55 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91ddf457-3592-4cfd-b455-ad237f8bd4bf phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc3f029a-e48e-455b-b4c1-6a1c7cd32122 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6057b585-bd1d-47ae-a236-333e18739861 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dd0be10-630b-4277-bb22-adb8c6886306 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df0bb12c-3ea7-45c4-ad2b-00f6a2e3eb4c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c40199c1-7bdd-4b93-8972-fb21da253f60 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc619f1c-63b9-45fb-8215-2d15e67749d6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6e4155ac-22ac-4eb6-b223-88300d3c4b9d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2d8c50fc-da1a-4c04-8732-df09afaf5021 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d4d4a1e1-cbc8-47f1-9471-556068fe345b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0de7af99-ff9f-4560-b6c5-aeb334f3d462 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8e174da9-04c8-4e5d-9432-99770c68f406 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:60dc5e6e-5e97-4409-8ba8-b4306f930218 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a891ffe6-a0b6-49c3-8bcf-8138fb2ff4f6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:65ae9b96-0dc2-4ff7-9fe7-84f05b2ca675 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b56e9727-31c5-42ad-b0a0-16223166d8f3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7e35e32b-7470-4534-a82d-8d7ad4f8b8d6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c1cc26e-966c-40df-806d-ee8d68a0fbc4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb85571a-17de-49ae-b2b9-5d76e8334e49 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:85bf580f-fa56-4d52-8987-b3f056e50e8c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:efe83462-8a53-4cd8-91c9-6d44705a2af4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:27a77f3d-06df-436a-8068-70998f707acc phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d4bf47af-335c-4c01-a7ef-463f4294ecdf phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5890b94a-814e-4e75-8277-d75709d5355f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:54cfc994-4a5a-4633-9652-36874688b2d0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a49e5de9-4d86-40b6-a3b1-5f12c1946126 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6179fc27-a356-4c66-99a0-8e4478df8545 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa6166f3-fde3-4d07-85f1-8ede8e27ea8a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:145884b0-8a2b-4dc2-8c78-bbfbab23ed2b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:03194c94-d7cf-4553-af51-8770363e2dd4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e38de7b-85a9-4cd0-9100-d8f0356345dd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0921f963-b138-4ecb-8240-1e69426fcad6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69df8024-9ce8-4471-bd99-593b0f0209a3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:763bcee4-070a-4290-a077-3ba1cea341a2 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d749b14-e2f8-4f2f-b671-3aa626beeb0f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7e9c52a-1fa4-437d-81f8-b2c0b88eee20 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3db675ec-1ca2-4a05-8ebe-bcc1255b56a5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cdfe3ff-6cc1-4ae0-889e-c905e20cea36 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51b7f680-dfe7-4409-bf31-4b80ad90db68 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e4d4fa2-f457-473f-b362-bcb0bbb83d7c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86052a02-b7e0-4334-ab86-85cd448f778b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a65627e7-0bf7-4962-b260-e7a5a66309c4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53efba50-e6b5-4266-b464-523335b170b4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:18dc0427-89e7-4d87-9226-f6e3721d129e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97d63e74-c06c-4f03-bb40-86f090f044fd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78658dce-c1b7-49b3-b13f-339d3c2769dd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6965b82a-ffc5-45c3-87d0-a0c8c0216beb phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45f3cc52-cfc3-4101-b05b-dc338099502c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a732e0c7-a1d5-470b-81bd-bbe64e4868de phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b008965e-afed-4fba-941e-7015a1de77a1 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:281e82bc-4312-41db-86b1-55ea2e579e1f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c88e5f3a-94c1-4b61-846d-5b20bfbfa4a4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63b3d4c0-9ed0-4d38-be77-a5a4cc144dfb phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb430bf7-e280-47e6-8ba0-d7711e51f6be phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e365729-a2a5-45de-980a-3f9755a81fa1 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1f5e647-b098-4cbd-9565-218b1f09314c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e15ef5ea-4310-47e2-9b9b-7cd101118163 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:09087bf8-f369-4c93-9bb3-5d93a5fc7a6b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc1ae584-dcd7-42b2-b6f9-25a1fa91ff32 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:83cefe92-4d19-49fe-9ece-751f15d20fb8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3cc5d31f-b898-4387-a233-43651adf5c06 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9413b3c6-77e5-493f-9df2-584b8da5b80b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a4f287e-d84f-43f0-b9f6-4c456b407a16 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4950d51-0395-4b7a-813d-73afb38fd8aa phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33352e0b-f600-4f08-85f7-b9495e4d6387 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ebbcea0-8dc9-46bb-8695-cdee3b2c6ae0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44846044-d679-4945-935b-a38590e8909e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58214706-83cf-42c2-8223-cafc73eeb4f9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79fd818f-1801-4938-afd7-b8d1ecfa3b39 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96a8a538-d57f-4db2-b12e-f293ca1eb2a5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1262b646-85be-4f50-9cde-6694079cb2d7 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4cf7b45-bbd6-4df2-b67e-0952bcfb3188 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a1fc451-3eda-4453-8e22-e9250e99efc6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cbac1f1f-98c3-4d30-bdd0-0e4761f4292e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:596d18a6-6194-4747-a06a-50f3035d1254 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:119318d7-c593-472f-96e5-de0a7be64aba phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2d7d215-8443-48d1-abad-974716bf0fd9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3494d20-efe8-43a5-be46-a22fd99f404d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86316caf-5e3c-4a85-9e4e-bd5003f73e78 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:14d0cfb6-f99b-427e-a2b9-1684d78aa981 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:48c1b257-4ca3-4b15-8cde-a3746bdd9613 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7695ade-6460-4b17-87d0-99936a860dc8 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3781fbfb-d3ef-4e4a-ab85-e52780049f38 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df182dd0-8abb-473d-ba70-186689362fc0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a3be58bb-2d13-413e-a599-dd49ef040713 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:806781e6-762d-437f-9164-20dfc38eaae2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6f9380e8-016b-46bf-9a43-6c42a4419496 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:322522cd-cc05-4cb7-bd32-03177bf0cf3b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e0ddf826-fb5d-40c2-b250-55075d70bd91 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6263229-9997-436f-ab66-80c58718dbb6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c8e261d-b6af-4c85-aae8-0d9bbd509fde phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:821ca133-1dd8-4789-89df-3d4fdcb7d6b0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6839846d-304d-4b1e-8c6c-c019b6fde7aa phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f862d868-b5d8-48c5-aebc-4b160256be00 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:42ccea5a-896e-4ac4-95e1-ca8766c3ec84 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec57744b-fb24-49a6-a6f5-5c09588c1355 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d79763e8-e811-45de-959b-6b8734267282 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d526dc98-fbe9-465e-97a4-115aeaca7bba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:86f13466-1552-4dfd-bc35-df1f3cb3b70a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:564badda-48ee-4823-8c16-f48130c33ff6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df8a4f1c-c54c-419b-b837-fac640748141 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25da6093-9441-4ee5-b55c-9cc55b7081bb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d1702a3-019c-434c-a225-c5cb62c3ad74 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff4ad5b9-9fc5-4beb-b005-f0b90232b4ff 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phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df69f3c-d042-4caa-8b55-9cd4b246ace2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdc91165-3e7e-4ca4-995b-41ee7c912875 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a524656a-21ee-4b35-a40b-0777c2442bb4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35e8edfa-9303-463c-83fd-b96f03ba2f7d 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phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f622fe0-81f7-42ef-93ca-3bbb37ffc25c phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c6d1fa99-9244-4247-ab90-ac9df3b00904 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ded04d9e-a3db-47a9-b9ba-b6eff7ab8714 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69d3f377-9fdc-40d2-94da-cf9f524763a9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df44a01-8f56-46a2-b034-04b38dff76a3 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61260356-11a9-4500-9db4-ef11153288e2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:013a675e-4472-430b-8b8b-ec5d083103c4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96e93003-f4c2-4a96-b109-b797dcac6633 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c491d52-974a-4192-a306-2f84298f1650 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ae7b1d3-05d9-4478-98e7-7d8c6a18b413 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:abb628fe-eb60-415f-b136-96d210a0a69a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:745e65b7-6217-4fb8-a6f3-d978d57b5980 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb0de5d5-0c26-4a96-8d98-9e3bee91b0d0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1667cc54-ad9d-4525-be2e-b061be426e9f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05e089ac-b319-4814-b539-152728ac2c0a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e2c7073-4712-4a10-93a9-8c2cda656e28 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40b4bcfc-a092-4b65-a58d-ae4359d2c59a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72d14ef4-955b-41e0-8512-38d55f568798 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:387bc5c1-3a95-4d89-87fb-67f4f65a1c6a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b8af11f3-cc87-4894-be6f-ce717d8834cb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d95b069f-ba3d-4da8-bfcd-f3adcf866be3 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bb501292-ec01-487e-9532-50021f002003 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de62c621-1117-43af-924d-e1fbfc265fd4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c97b54c-7e7f-4cc9-ad1c-c616a9f8b5ff phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15560156-9349-4d38-8cd1-a94364cd9732 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5000078-9f95-42b7-b700-ebfc0df3af47 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6089c46-9158-49e5-a527-69476bccbb74 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8ff800d-bb5c-4a9e-9c21-4cf5423d57f2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:7cd1c247-88c8-4f0d-8856-2b7769b2126a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:a9cdd295-dd00-46e1-89bc-9e42f6605108 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:dddfc4f0-f823-4528-a4be-ee7006e82671 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e32474de-8680-44fd-802b-21a2abb24bd2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2719ba0d-2e82-471e-a2c7-5da282012b05 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:19892f24-e669-4ef7-a39b-cff6d37bca5e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37ff095f-ac20-4e27-a9b4-73b0a5832287 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a863c6b7-ed75-46d7-8e93-7cb71a375d00 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f44fa848-acef-430b-8d95-f09df8d472eb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8329e8f-d88e-40ce-a892-804f9e2ec108 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e1f7503-eab3-4658-87bf-9ca5f08e48e0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a55a83ea-9d87-4415-8572-1408a32d2d95 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa08fd0d-b601-46ae-9d89-526c59e9cbd0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06159d6d-2049-4765-905b-9d4700d16c7a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d0aa0829-eba3-435f-a7e4-44e4f58c10bb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbfb7c69-7352-4ebe-8175-afbb4cf67556 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4633fd81-741d-44c8-978e-a3a6c0b94b58 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72fe956a-6657-4faf-8680-ce57be9f18a2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e523aa9a-05e7-4c5c-ac0e-824e2512c59f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f44c7a6e-072e-4bfc-a472-a5ad9c5e969d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1cbe560-ad9c-403a-9a7a-43cec1ee24e7 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a16524b-111b-4361-86cf-20df35e8b311 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc718a53-63b0-497e-8a92-20c0349c80aa phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3029e90f-0d55-4250-ad63-b8c2b9b2df2b phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dfb5ff48-4158-4167-8c2c-a168b9f2d304 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:252885df-7f89-41f5-9990-d889beeece45 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1024ecd0-55a4-40a9-857f-fe9e0163393f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34ea4640-e9df-4bef-a091-eebf92c02fa7 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phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:863c9272-fc64-4c3d-9b35-82bb64cc57a8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d6d924-8bc3-471c-941b-faf8880e122d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0629547c-6bc4-4be5-a84a-83723f70c5df phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:068d5c00-678f-4bf2-b534-dcfeda4cc12c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f6b642f-fadb-41a5-b93b-984e5c9405e6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7835672-9e13-48ed-a6e7-e65b6bf4ef6d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd694c99-ec0b-4df5-a919-051c086cb542 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c77fd9b-93d1-4c50-99bc-d51123655f4c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b37fd85a-8cb3-4c71-b3d9-213f1f3fb9b4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f8e6f15-473f-47e6-8084-2557c241d2d8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4862713-815b-436c-b0aa-5912b7e9d5bd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23cc400e-8d8a-498a-91c6-3b0922c61b24 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77f12738-8b15-49f7-9515-e882e00c75c6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:140e4713-0004-42f6-a1cb-756e029d8ef3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0192b8b1-6b7b-4c75-b45c-eb93107bb669 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e065309c-06e6-4898-924c-a8756543906d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:632e68ea-38f6-4a7a-94e4-0585b3d741cb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0112e32a-4991-4615-ab9d-508819d2bec1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc7cff62-45e5-4287-9f2c-16c87d0c03d8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b62d8cd-04c2-4364-a3aa-66a6bde98f67 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:500ac0cb-6678-47e6-a434-432bae686ceb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3961194c-e488-489e-be3a-e87bd4e1fd5d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f1312b8-113d-48d2-b110-213f3e283eef phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c0916c1-b21d-4e9b-9800-0125b150c85f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f70a7d9a-be45-4907-bb78-688d1bb8b413 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce9f902e-f710-4647-b2a8-0e05dfd9cff8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f6d2cfb-cadb-4a9a-a3b1-e99bcc7012ce phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d64759d-f69f-437b-a3c5-77150a3b4016 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c2c1cab-242a-4830-ae44-385b4ca648b2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e9f372a-dc1c-494d-a5ee-98ccf6bac421 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f76d341a-5753-4764-824f-2905ccc6def1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ace44c8-6869-4483-b7f0-03428a74e060 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7bbfb3c5-4eb8-4cbe-877c-b9ad8e97a457 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d73a88c-8152-431c-8d47-8ed56a59bec5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d37294cf-165d-4098-b128-7ab160519e0d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:387a54d3-9e60-4702-a83d-6147436747f9 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3794aab3-3b81-4e10-b9eb-0eea2799f2b0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:017df984-d04b-4745-b190-21c636689909 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e23efc44-a3e7-430c-b8fc-b604b5da6a27 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e15d218d-487c-412d-93d0-0e56b3c0f4f3 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:f38a6e0e-7808-44c8-be20-16dcdbbe2585 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ca62e4e-2fdd-4b18-95ea-ec8e20ef9307 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:aa9c4c2d-14d5-468e-bd8c-230c27428739 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:82e8a34c-76b9-4495-b261-4068a0d2665e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7379ff29-f619-47ee-9ba9-4518eff5bd70 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c0d1fad4-1fad-40b3-8527-cfc4a815f9ba phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:60d53428-c924-4fc0-ad84-11891a74e4ff phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:334e3341-befb-427f-832d-0c7646e77d5b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9103795a-30a2-4c8f-b71c-02eb23405410 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:140d32f4-81ce-42a7-b7fd-25d3e6f38378 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0971c113-d175-4ba5-b201-452e570bee97 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9f857415-e041-4790-aacd-0ee5b4733fb4 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e791427a-315b-45a7-b6a7-6234f85c8795 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7af9f1af-3d85-470f-911e-2e670ecc6da8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c60be799-bd28-400d-870d-1cf55ab906fc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bcf9e64a-e39c-4029-93a6-2ae1a20dbbd8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3cd9f35b-7f67-42a9-8892-b1e505cfb5cd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8556c2da-a90b-43b2-aef0-86dddfa30ac5 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ffd3fffa-1514-4293-96a9-81f83982b6fb phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d18644d0-5542-47e3-a74a-14c22d6605d0 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a2d0f187-9774-473b-bc38-c8c5b509b76f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:430b8b10-8af1-494f-b595-40181b919288 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7a4d827e-d377-4cf8-a2e6-aa9744cc4634 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7e25878a-8776-41d3-9279-bc21fd86c82f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3025a1b4-e75a-4271-92ac-8b18880ee4e9 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:feedf97f-0523-4f2d-aa5f-8462819f53f0 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57082bcc-e22a-4228-ba2d-2b00c607395e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f686b0-fad6-4628-bf85-d1626813dd1a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f72f5106-08ff-468e-b18d-b9eda0ac29e4 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:353bbd09-03c7-4052-b885-c8e9ff419aa3 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15f1e8e8-2143-48ec-af0b-9bb3fd6d8cbd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db435073-a42a-4c6e-900e-20d86a56f959 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phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9016424b-aa47-432a-8022-f0c24c46c31b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5ac605d-86b9-425e-a29a-bbd37d5e8bab phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba80a442-7f48-49c3-a58d-544c64d315f6 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed376b5e-344d-4744-9bad-e9d0e2e80a9a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8d80253e-146d-4a5d-a6b8-db3ba0026fe8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ab923b0-b3fa-4eb4-9d99-c7c007b23c1a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89de0cdd-67bd-490a-99ca-25e45eb76650 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adb05e1f-32ff-48c8-8c92-f8243faec9ee phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9d2bdbd-50ec-4d35-a4dc-38d8ce0076f7 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7659ab8a-b45c-43d7-9aee-99d245f89179 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f38bd317-fe4a-44e1-bfe9-e286516dfe7a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:645b35f4-4414-4601-839d-053a876fa90f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b944f983-c991-4da6-9471-6626a87a3056 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90ab8f37-bc99-4936-9a60-48cc970ade67 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a78d1e8-27ce-4fe6-87bc-9d75c98b578f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a43c7ee3-33a3-4ee3-a8a7-6f01ae0170bf phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5010c8f-ae7e-426e-8cd9-faca56d700f7 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3fe6211c-e6dc-467c-8a1f-78356f68fb16 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e3de0ce-70dc-4677-8687-2de4abb1cc58 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:59e0217d-8bae-478c-9b7b-624a8bcf0174 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40afa4df-2bab-4425-a149-f6fb682fe7d8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48900ee0-0c57-4780-a49c-891e4dc84203 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53bd5977-ec61-4fe5-b19a-25cf8d307957 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f63b7bc-d053-4f76-884e-d3d3f5135a1c phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:220f565c-efe8-4e88-b702-e3ac32703050 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:01f8fe62-9d24-4843-8f5e-c594834df6fa phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a783af0f-3679-4a7f-84f4-92c933022942 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fe2a747e-95c3-4a0f-8707-826baecaf44e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d3d766ee-9346-499c-84a4-eabfbaaeea5b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24fd60a5-b467-4aa9-b18d-9cb5f1f7202d phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0260100-1729-4e81-b183-c86a0fb3adbc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5654af61-cd2a-4175-a79c-3fd4cb63cabd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e87939e-72b8-47b2-a14b-5747e9285762 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b94a54d-5252-412e-8a35-e8430b0577fc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:111709ca-5789-41ac-96af-a287e9161a02 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db58c280-4965-4480-b896-27b3fe413b62 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afe1393e-4782-4a68-bf10-685698d4433f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee2929fa-911c-4587-84b1-3da238c38c4a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7165976-984c-4d44-bbbc-0f0e9d8ccd31 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:1c3733ba-c879-465a-be73-3436871a1083 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:12dc9d3d-9e2a-4ae3-954e-be70d86cb618 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:56c2146d-2f9c-4089-9e06-f5ea89e37eef phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ccf5a75f-f090-4306-8188-c3b495a5db4b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:11c36dd8-58df-4d89-9c82-6892fa579850 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:31f41c15-41d4-4913-8d59-6dab25520f48 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a69c255c-f1f8-4fd7-9b3e-d72ceb2f403b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8ff66cd1-3280-4e84-be81-d9a06d95c89f phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:236cb510-9051-4400-8d1c-73d87d0ef0bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f4a4a29a-7ebe-436d-86a3-c642b6e8173d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0ebed28c-3ffe-4977-bf2d-af1275ccf536 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:de394285-5091-4f20-b0cc-f2c251880ea8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:43d13226-15ad-4df3-beb0-fa2404104b14 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89422aaa-027c-4a28-8c95-83f69ec4a3ba phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a44bd8ba-90c2-4517-8c6d-09e8833b7d3e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86018033-9f2b-44e6-848e-e9566327c2ab phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f3bf8b3d-9a68-49ce-b086-19c4de6b84b1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a3d7a933-712c-4190-9638-16036a7eadc2 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a47f078-0fe0-41d3-a83c-82a7fe869a45 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a63291a-937b-4762-b2fc-d5c31fdfa616 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0e443cf-5d85-4cde-989f-df52fe64b1a1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:473d07d5-6134-46b3-b6ab-67795e817db5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c7379ea-32a5-4843-bdec-f6106ec0ea02 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:960a87fa-988a-4ef6-a26c-24192605fde8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75bd3b8b-9af7-410f-b911-ff8da1c69bf8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf5a3a23-2419-4cef-9660-3c1e4d22995a phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c5faa089-5f71-4e38-ba4f-49876ef3c753 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a86e4c57-2200-44c9-976a-0fc0ed8301f5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:83fe4a4b-fe73-42d9-93d0-bb1b09589611 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1bcf5a9-823c-4798-9b45-be13cf884897 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10fffcd8-073f-4fff-8d0d-5e9e5b471707 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:857c9959-be0f-4bd7-9617-56e754686b07 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a5632cf-fd02-40dc-9c1b-cf32bfb36ba1 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phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad3342cb-0272-42cd-a841-f2b7b8d90e17 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae33af5e-c6f1-4195-bcec-1192a607e4f6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ba6dc77-d591-4012-a78d-6da470d388bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85cd19ab-17d4-4a55-9477-8f094ef6cb8d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8814b7bf-c7a1-430c-bec8-41663a625084 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4348bc25-3896-49fc-bf06-5eea359d1218 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e36d154-67c4-42f3-bd54-bac395778d23 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47669017-8f73-4467-a6ac-6407b5885633 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46aa0a4c-cf60-41d9-8788-9870da36fce0 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd0c10dc-3731-4092-add1-8afcc8426698 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4eed3787-83ac-40ed-865c-e339ffdb9a5e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82923b01-ab93-43d5-ae86-a2c09c2a138e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55225604-81d9-4abb-a7fd-1a28b03be512 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a76ef7cb-fd6d-47df-844b-43bf0ba1c84e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ae6058c-8260-48a7-96cd-27656510c4fd phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f334fc27-6e3d-4bc8-b754-818cbd31a5b5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8184d023-4ae8-4c60-bcaa-78195b65bc77 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c4a4875-3d5f-4caa-8838-e21fb57ba803 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f19f26fc-8e45-4c5e-9317-4b0df0948398 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2239777d-9943-4f88-8538-a874bc34fc43 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f7385f3-32c6-4c86-b4c0-972f66ea12f9 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f50f33-f162-42ac-a3c0-e532bef9d2bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13c9ff1c-2b6c-42a8-8bd1-0f4dcd17ef69 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf132743-6dfc-43d2-a49f-f93765568321 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phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7ed1dfa-2319-4507-ada5-b6bff54ebf72 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0cac496-b9b7-41e7-bfde-7abcbdcb4a25 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ff9d588-e430-43bb-aa04-5a0c7eea096a phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3221f5df-986b-4422-9811-0cf0a2af3796 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:a285a5d2-f190-4ad2-a066-5185f704b86d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:be35fee8-150e-4187-a620-c010e048df66 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6753b00-2181-429d-974b-124de7ed3956 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:23b765da-bdd2-4a14-9490-098bc0d9c745 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 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biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9f317689-3049-41b3-84b8-462ba19730f2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:acb546c7-69e7-4b3b-8d97-c6285e651c2a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:98d49f0d-0337-4bbb-8b2c-4ba4396fb78f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6789fb6d-153f-4bf6-b15d-84d754261093 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b5167587-9d12-4a83-8ea9-d510422d2d5b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:409e0ff5-cb23-48f0-9743-c164871b5a12 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:36debebb-85c8-442a-91d8-b52c2089d643 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3fa638b2-b03d-40e6-befe-fd1da9c022ec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1679f3d8-28f1-464b-bce3-100f34d1cb7b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c95f2e2-20b6-40f2-a562-fa383ad40c98 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:daf2aedc-6933-4d7d-b08e-6b8df5a6b5c0 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66d3108c-4af8-4842-bdc9-ad7ec00d2155 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd111475-3d01-4bcc-90fe-1704b485a73a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d8594c60-634f-4ece-bf0f-d853f62837d3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d81d300-43da-4772-be74-ec57d1db1830 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e3aca6c-2beb-4f15-9384-a04452d3deb7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:916118a0-5fcb-41b4-b221-5e047dc20314 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:501dda53-b094-465d-882f-007b3ed22a78 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2d14255-0f8b-4ace-a1de-442d37e6fc8c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc9c7736-664f-40f7-a207-e48a0a29966b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cfea6e97-6835-4976-814e-53c26a02deec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d371b36-a02b-49ef-9523-8c89b8a6c7ae phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ee46c06-c227-42d0-8a3e-3aa0093f72bb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:62a7e0ce-d84f-4832-928e-7b41b4f928b8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c38ec04a-0e66-48ca-a039-0b6afe8f0435 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e69c88de-501f-48b9-8405-fbdc83395304 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:688b5aaf-22db-45d3-a73a-5249a1f7690e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f51d84-211d-4deb-879a-6338246ac785 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:903fca15-3491-424c-baba-d613df20efb6 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0fd3856-93b7-4229-9ec9-dc7193cba9f1 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9354263-c7f7-4c14-b046-8c18a78976ec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d586fb11-c433-4fad-b6ff-5ef0fd12cdcb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca547457-eed7-4f20-b424-01dc3d325563 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d39e54d-a38d-4cc8-8273-6d90759bf99e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3e472b1-f82d-42bf-aae3-2faded3b625b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4de6686-921f-4717-92f5-6bb06e147402 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31ec8fda-5581-4db3-a5e5-ebf7fdf01b2a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a25b1fd7-3b5f-49fd-ae62-612884d8e626 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d36bb663-7872-490a-a834-17053db4184c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:260178df-b34a-433e-936e-fee79796b025 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1fea670f-b6a1-4ec4-8c82-4207530a0025 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b24afd5-922a-4fd9-85fb-50acf675fa9e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ee3e042-d450-4aa0-8588-c133ded3053a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c9f9327-3821-4ba2-baf3-54fd9a88efeb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:721cc76e-d56f-44cd-88aa-ead62dc044c0 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b516a80-78ca-4baa-b5e0-ac86c8301d08 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bbbd6906-5e2e-41cf-8380-9ff3f47be7be phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:332fe4ee-921a-4411-89b4-53e11332ceca phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e8e1bf8-e62f-4ff8-b8e9-752ad180b581 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35cf6d9d-a030-4aa2-9077-1e79b47bb1f8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f06022c-8b9c-472f-8f22-5b9b927ec726 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46c9a363-867c-4f10-819b-90f736d0dc10 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a40a311-df7d-4e1b-a560-bf4daed50d88 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8324ebbc-2abb-4886-ac7c-07a5d20ca6b8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e59c1421-1628-4515-bab2-e53e8a0acebf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:00e6c57c-e49f-4e11-8bbe-403aba8ba598 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:062fc1cf-9166-4be4-9ff6-fd8644d7ba68 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ea01362-e240-4a6c-8ca1-ddded38ba488 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c7ec8a9-c374-4964-93e8-c7e85ac61493 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79fb4f9c-2917-4e86-892f-ff0b44bbdbdf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05737f00-de93-410b-a7c0-f6aa018d6a25 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:072de7fc-9dca-43ac-b3f7-368891710f43 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:398f34aa-b273-45cf-9fdc-4c5ffee52fed phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f47f0ff2-926b-46cf-a0db-c1b302bdd81c phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:e1a50ee2-d528-4bac-aa3c-697f40bc13e3 phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_phenotype HP:0006282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:bb8f820a-3669-444f-b9a4-a16155881eaf phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_disease OMIM:617297 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:9799d197-a5d4-4bae-a717-c06265d474f1 phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_gene HGNC:14376 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:224c15a5-156d-4b9c-b710-43922dffd857 phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:1ccc0cd4-7377-4be2-8688-bea10d3e1a24 phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_phenotype HP:0006282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:c464e550-6957-4d1a-9d16-e3a8089db26f phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_disease OMIM:617297 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:68be3008-0ca9-4490-befd-523c85db031c phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_gene HGNC:14376 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:4f87b4f9-7e05-46af-8a1f-1416f6034b5d phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3bad8785-3a2a-48ff-8740-f87aaec875a2 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3436cbbe-0ce3-4b2d-ad5b-1f6d0d48110a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:2ba152b0-1107-4377-8456-9e74e8045267 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3739df11-d7e1-4819-818b-19d7ec04f85b phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:ff224ddd-0702-4701-80b0-1563a98a712a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:a571a8db-33ab-4b3d-9e04-8e0b48236e99 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:85758951-69b6-410d-b38a-b1ddf632f348 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:a34342b2-83a1-44ce-bef9-d77fb0345b11 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:ae740af1-a2df-4482-96f6-7d965f818a5a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:b9810b0f-bd96-4b87-b644-17584fb32fd5 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:be7e2567-87a1-466d-bb08-618eeecf38d2 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:9b7f95e6-8db4-438f-a1e4-d00a34bf94a0 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_disease OMIM:161800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30517146 uuid:4ee66101-2578-45be-80f9-0c0ea7788904 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_gene HGNC:129 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30517146 uuid:e8ba8d67-1a90-47e7-8f39-31c3b0e57794 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ecb89ba3-539c-4c63-9f96-8c0b270cd3c7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d0748d2d-cd2e-413d-a963-59ab9e7c84a5 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:79f994ae-f644-48e2-9104-feb68846621d phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:fbaef892-0e68-47d8-a264-fcb3e088d3f1 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9445a4d6-f044-4f0d-ba74-c26783b8f3e7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:23724693-22b2-4e31-8d7d-7e48ea1f38e9 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3839699-3c1e-4d7d-87da-e2a82424b404 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c9e8822e-793e-441f-9199-e6e8e61e5720 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bbe62555-3957-412b-9915-d29dd9cb0da7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:922e611e-437d-4038-bbf2-2b24ceb2d41c phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:615a739f-1448-4533-87a1-3541479731d7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:e4094c99-c546-4d30-bdf9-0bae5579d4a0 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:bdc58cfd-cc2d-4ae8-b646-1fcc6d8dd38b phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:92d461f0-02ea-46e5-bfc8-f215eb2d877f phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d5cb0753-4d06-4d31-80b7-171709bf70f7 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:94486f51-28e7-478a-86fb-f71741c3ce3a phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:5307cbe1-7429-404e-8a83-c99688ee0b06 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:1b16a0a7-3067-4878-968c-7419df7c564b phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:168d47fa-4c18-4c3d-91d8-832ec276adb3 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:06784be6-bf95-4681-84dc-c0dbd81d32d4 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bdd30107-65d0-4c38-9e45-1377eb04a426 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9ed25af3-4606-48b4-982a-7105d9b3021d phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:018b6b12-8c12-4b12-a748-3e6ed03464e6 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ec2ef12c-3404-4bf0-adcb-a4fb14700afb phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d0e63584-ac65-41f1-a432-aa7a137beef4 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f8b926c6-643d-4a47-8830-a65a9fc48acd phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:3a017b67-5b70-45ad-83af-f9b77dfd3c24 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:09134f44-4415-4c12-aac3-2fa7122a8fe8 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:cf516350-d3c7-46e3-8648-752a20d2165a phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:85d6319f-85d6-4b62-8089-eb8c7610f32c phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f65b9fdd-d892-4830-a90b-d2d80c4a16a5 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:06bb1053-722c-45ab-b13c-314c83e4c5ca phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8c7c345c-7aba-43dd-b580-c38ea2af3275 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:65fef5d7-d616-4279-917e-efd206cca971 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:cfa729e4-6c8f-477c-911c-ceb81fc90f80 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34b5b12f-ad7b-4450-b99b-60bf2a365bd0 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:4000170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:066a3a9f-fe9b-401f-ae95-7d8173869225 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a5f3dd15-b173-47c6-9ffc-29900d3b3a74 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:dbd36765-5a1e-4d34-8bb5-0adf843fe092 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0654363d-23e8-440e-8fdb-7c84c2f48460 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:23e70fb9-f9dc-41ee-9522-808a4412927e phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b6fb3f4a-e66d-490f-b2d2-6b18493322bd phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:92763721-ce4a-4b68-8bc7-dd3debbc189f phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:71dfdeea-8163-44e7-bbe7-924599de508e phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:17e10f2a-6a99-4702-b65c-6257f376d6c0 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f0856419-9572-4573-90fe-11395aefc552 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:3207867a-4597-4fbd-be88-136fb3f26e2a phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:c4503866-680f-450a-80e1-33caa8d6e381 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:6cad1823-6afc-47d4-994a-35344efc4da7 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8d47cbad-26ed-473a-8f3b-463438a121c5 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:2db58705-add0-4a28-85b9-a434307a8a7a phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d57431a5-35f3-4da8-aefd-7e49f07adf2e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:0ca7c912-e833-47e9-8855-7c061d72aebd phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:83b09b3d-e5fc-47b8-b99e-09e15162888b phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:e97a210f-a37c-4af6-bf84-f58d8c8fa07e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:5e81d953-8cc2-44ec-99e8-8363f353e60d phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:fd9feb00-66b7-454f-b01d-01b1582c5463 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a7e05f46-6d88-4897-a944-e34babc9b00b phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8237149d-b7d6-403d-89c4-7561285e8175 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:63f5b98f-edfe-4549-ab2c-0d2690c08ffe phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bca8b144-8c04-40ab-9c1e-0289d43f3078 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5c078459-36ea-4fe4-be2e-95d9c25654b5 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f338e30d-b3eb-4e9a-91da-ffdbb462c942 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:70631348-4dc8-4b18-b8e0-1223dcf3b644 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ed14d285-f7d4-49ab-9ca6-f4e9585ae6cb phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:863f39d9-63fe-4d7d-844b-67686653d8fb phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:58f80089-60f3-44d5-a692-f4ab72490ad6 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8c050c93-90cc-4536-b7d2-22e5a9f1241e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9eab14a5-16a4-44ac-9275-a859b4e919c8 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0958a50b-b7a6-4daa-87e0-ad2aff661a7e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5eac33c1-49d3-42c4-bb1b-0f86ca175632 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0405195e-5efb-445c-a088-5930ab26b694 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:00d10744-11f1-4617-9e18-d1be356772aa phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:41eeac03-c030-49c0-9b49-4a4d787715d9 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:135b621f-5405-4db0-98b5-9f4a229d51e7 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:70db0ce5-a722-4103-a12a-0bc8338a3a01 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:588d0834-df59-48cf-b6ce-86d3f1cce08b phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:82922f6f-63c8-41f5-b371-12a741adcad9 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:870a6e8f-ddb3-44e3-aaaa-219390504047 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d26be3a8-0240-4f08-a3d3-c2980f6775d7 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b0224b3a-4f26-4aeb-b29b-fde0820df84b phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f6a47ce8-8fe6-450c-a073-72ce9f9b7145 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5ab5b199-7847-4c83-b42d-a067e162b3fc phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:16aab620-6ab7-4bb2-a4d7-e2656c859328 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b24090fa-4173-4c3d-b22f-c0ff6c5cb9e5 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6f188b28-d1ad-4422-a3ab-a87425f64c63 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b43802e9-19f1-4900-8dcd-f5863871123d phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:537b86a1-458d-4918-88da-b19c62a69baa phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:790a1b7a-4e2c-4ee8-a262-05347d1ee9af phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8e1dea30-38bf-4e9d-bfe5-57f10cba7231 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a2d08e40-0cdb-4efe-98fc-733872cb51d2 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2caee753-9987-48b2-9998-609c3603f2dd phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:860e8878-a6b3-4c7e-ba0e-2054c432466d phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ebbdda34-adac-49b1-b55a-c8185ef493ef phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:99437db8-1275-4e18-80db-f67e4ef6ca09 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:51c9f936-6bcc-4082-a33c-a9ab31a05c02 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:847555ed-baa6-4e37-873d-f0fcb5b9a792 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:befad965-37ef-4fa3-89dd-9a5b3a76aeb4 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6953ca24-8e45-4a3c-bc76-9f3c10190221 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:7ab587b2-98cc-4f0b-9bb2-6ace02a2a472 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ca77d59f-e0a7-451f-b662-904078bf1a16 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:10a37689-6fb8-490e-bfe4-d04b528d2031 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:73a0912c-2847-4bee-ba8e-593d3f5f73d9 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:65d092f1-9992-424f-a15a-49348633ac28 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:2211ccd5-b899-447f-8061-abbcef225053 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:1970fa3e-214a-469e-adb7-67baac888a0b phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:ec6dde12-e3e3-423a-a071-f1ffe359988f phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:57260c8b-3697-4742-9c1b-0a5d0ab5644e phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:dfaf8594-c5e4-4b6d-8550-92dc0a434f9a phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:b077d70f-006d-4943-9506-25ab0282da6e phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:f672488d-035f-430e-a14a-6e0837f9a578 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:5d34fd40-f37e-4059-9feb-6c68c1288d5d phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:0b88e175-55fa-40d2-8993-d3c1990418d4 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:30d83cb4-30f6-4064-9d97-2f1b36832407 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:f0810000-e602-431a-b486-562bf2a0473c phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:9a000516-191c-4c22-9459-177159b11ce8 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:7346238e-2723-4f7b-8d6b-053c7ba1ace6 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30733661 uuid:12395b80-d4d7-4b09-9b48-db6ad8799dc6 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30733661 uuid:774b122b-cbcc-43d7-97fe-349eac3369be phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:25f0a7ce-233f-48e6-a6ff-d6787abee6f5 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ee694416-6196-4ce9-a87d-82b6db6d59c2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8ba2116e-00f0-44f0-8ab3-f5ab6cbc7c9d phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d452cb02-1d05-4a52-9a19-e5c05fec7817 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:015e2748-4329-4d35-9b82-919e6daf96c2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:800837d5-4568-4ffb-94ab-29ec67add979 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:56a773d0-5eb9-4582-bce7-25f778f7b3e9 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:82f6e21f-dc3a-41e1-854b-b5f85cdf7054 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:57899ee9-52a5-47b9-81c6-c2a70cb055d2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:2e2fabbb-0cea-4efc-89a3-adad1f5ad5e1 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:83b435e5-e062-4fc1-844f-69d6103028ef phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d6035d80-f38c-4b66-9afa-6911b32c27a6 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:7e9763db-330d-4442-b86b-607076133a3e phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c198f591-b4b9-41e2-9a1f-dca4b8ae44f0 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f2a58f8e-16b1-4175-816e-3e79d8fb6f67 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:eba47b40-c205-4a95-909b-d3ca97c566ca phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2442b82a-33fe-4b5d-b171-e89e907febde phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b64c3aa2-aa7a-41c6-aaf2-ea01dc9722a3 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8ae32c1d-4955-4eb9-8f45-522d151ce39c phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ab14e303-52f8-4b7e-a6e0-1dff16ed260f phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0ac93cd3-8127-4f3a-aa9e-bcd99d247d53 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b8a67f21-8747-45a8-b937-370ee4d8aee8 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2712e67b-c888-41af-bcda-6521fb1ae586 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:43b5a10f-8205-44aa-9966-16ee9759182e phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f176fdc2-caba-4c07-90ee-4b113e028126 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5e0f6e45-a963-484e-b429-e99867b4e99f phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34323bab-c714-4ea1-ad00-709d2d020603 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6bc8c4da-c046-4583-ade9-1eb88a5e9571 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9f6ad8f2-b889-4944-b7ca-d49d48ca7536 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:66c3f722-ecf8-4e8f-9439-2d4e038b25e2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:9ffc0550-8107-4881-8005-384d1acad361 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:9c68d9c5-f80a-40b5-a522-12a9eca0961c phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d02065c9-d279-40bb-a243-8d1bd45bc8ea phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:64cee6f0-bba9-4c18-bff3-99ab9b16bd1b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d9f53907-9dc3-40df-a860-36867d7c4d36 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:66235ae0-5cc2-4dd2-8228-748c51f3c732 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:22961ad5-a9d3-491f-8456-1db962e25153 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:43f7c962-2f2c-4a4d-9f70-7bd2b242a103 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ba753a86-cca9-4b75-ae55-476900b49189 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:95816b16-84fd-4e65-80a4-ce4c860008a9 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:3f80e919-b272-42bd-b362-ed3e7a8f5669 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ecf46834-1703-4ebb-ac45-07a98fc2d9e1 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f6f4f7c2-0a65-4a6a-af13-37c55b49ffb3 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:cc196dd0-967b-4f39-9ddf-26e238d835b9 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8c600a10-ba6f-4bab-80cb-cfcf63486c08 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:1d207781-897c-4f10-a718-3c7e838673c8 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c227f5d6-2eb5-4990-9d33-9ce5cbb3ee20 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:31ea3f8a-de54-4042-92cd-85df31fea658 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:3ca5a09d-631c-4fbd-b8ad-30dac1d4c810 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:75401aac-d1bf-4bfa-b67b-b6264009044b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:e0a72fe7-2ee9-4045-85d4-452db50607c7 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:784eaeed-d80a-4274-aec4-3297c789ecad phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:92e07eca-826c-4706-8f40-62520e204125 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a12a006f-702c-40c4-8423-6793229b9933 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:67693065-80bb-4506-950e-632591ab8d90 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3d0fde1-5832-4ba2-961f-041a4c56951b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8eb0ef80-532e-46ba-baba-dc63eddf087e phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d9c65800-6e6b-4d22-92e3-56c76e3241cb phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34bde19d-18d6-4ed1-a8fb-27fb6f628b24 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b0a609f9-e7d4-47b5-9f65-19db86ad1afa phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:00fa6549-1c74-400c-b0ea-514fad52da18 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8568d828-7ccf-4979-bb39-9aea28d9c931 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:7614ece2-a4a5-4e48-ac85-0e1c37f3cdb0 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:1a13c0a4-02cf-412b-ae2d-91eac656ef46 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:85653bfb-bf3b-4f20-ae7b-58fbf365a4b3 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:26454490-fd24-4eae-ba2d-87c34869a765 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b58b5457-b96c-4d3e-8819-d4f323d2161f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:6f02448e-4a89-46e8-a06e-211855b5aeb1 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:c9a83b9d-e2de-4a2f-a284-135e49d1e025 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b38b8a71-e2a9-4356-a4d4-895623ba587e phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d148baa6-2652-44c4-8e4e-cf49a6870149 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8071a1ad-b113-41fe-bb1f-22bce0179eaa phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:7a04f411-d575-4342-aba9-096c3421cbd7 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d6fc4a7f-b0c7-4f81-9ec3-c2f594eeec0b phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:bd972ca7-edd7-4957-a8a8-ab8f5b3e6f0c phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:25fc0f7a-68e1-4c8a-81b0-ba3c66726046 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:74a41699-62bd-4497-8646-9743b646d2b3 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:7667dd98-c2be-4276-82ac-23550efd7da2 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6958fa3f-40fa-4f28-9787-556b9a300e27 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:817737fa-7e03-484f-af63-02123fe2be4f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:938000d5-7289-47e4-9911-be7711556746 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:4001e833-24fa-405a-9b76-221486e7bc66 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a1fe2451-ada8-4162-9d15-98396885668f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5f90f103-efcb-4d3f-9cf8-cf684697d554 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3511422-bcf3-44f7-806e-17ccba5a0bae phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:838059e3-fac0-4273-8006-3583bed16a44 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ef44bfbc-2bb8-4d6e-a827-50d863ee8ef0 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:1abbca7d-6767-4efb-9c14-0e75bc267e03 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:4000170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:395226f2-2330-449a-8c0e-713795948799 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:e87a6347-15ca-4fd0-918f-0cd8c90b55d2 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bde5d154-bde7-45cc-84d9-72647e1848f9 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a1e27909-ce00-49d2-95e4-90c5d661cfca phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8895fde9-3d4b-4342-980e-c7f62c8a123d phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8f3f073d-be4d-464d-9f96-728de536b469 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c12b1380-43c7-429d-b63f-6a3f08828c2c phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:f1d7c1b4-cedd-40b3-b8d5-509bb516fc5a phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:84644612-dfda-4481-99f1-aa03abb4ca90 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:3f563dd2-6edf-4b49-80ce-8abd16e66e19 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:84f214b3-2b52-4e07-94b4-281a7ded8955 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:c5461170-6b55-4434-96c0-e15d1b4e7731 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24069336 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phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:eaa267e0-f80b-4854-98d6-b7b938f5a89d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0011987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:20de9cec-118d-4b6f-8189-88f57743527d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:d032daf7-f5ea-4ec9-9c83-c1811461b5bf phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:b531af37-036f-4723-a1bf-44bc8c7eaf4c phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:fdf2fe9f-9ec8-4005-ac6a-80ed24a4ee75 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:a160889a-025a-4b55-af05-f012f20a06d1 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:c49f1d65-72b9-4042-92d5-3ddb75041d79 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:4b81f565-6cd0-4467-9d3c-1e164b76241d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_disease OMIM:135100 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:29482508 uuid:bab8a112-1733-4ffb-b5af-22aeec733684 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_gene HGNC:171 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29482508 uuid:890371e5-ec23-4bdb-b9b5-a899e99e6944 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:8e9a0a84-9f6b-4789-b327-af1b30bdb6ea phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:2d41bb11-7982-4ae9-99a6-3a9d866a9301 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:598b6e4b-3839-4f0d-98f9-d31995d18225 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:1680289 uuid:0c2b90e1-e3f4-4580-ac1e-d350691cf3c2 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:1680289 uuid:94fc502b-ea6c-4e9d-a567-85f4fe79fc7a phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1680289 uuid:8cb9aac5-8352-4eda-b494-41f7ba11866d phenopacket.store:ADA.PMID_1680289_patient biolink:has_disease OMIM:102700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:1680289 uuid:0e0a2fb5-ff8a-4361-9a59-64c258158742 phenopacket.store:ADA.PMID_1680289_patient biolink:has_gene HGNC:186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:1680289 uuid:5fb829f1-de30-4e9e-bc83-81962ef78e06 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:8267671b-9911-400e-8673-28ecac9852e7 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:2b4cd6c5-ff96-480a-a035-e4fa6d15ce30 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:54b3548e-cab0-4b64-af69-670bd30c3fcd phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:9c5b2d43-8338-4003-889f-ecaf78b31d61 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:ada91940-ae17-4943-8d18-9eda39250267 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:98619ead-d25c-4a1a-85db-ef82bcecf213 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:13768503-6563-4485-9890-edd894d1e56f phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:81c195cf-8b9c-4b4e-8af5-e0c1355648e4 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:0438b0f5-6c87-4aa9-867c-2d3c4e66de9d phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:d7a01e3e-28e6-4aea-9c40-01694222ce16 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0030273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:2d895478-4375-4875-a70b-af58d6c66028 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_disease OMIM:102700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28823388 uuid:2ad42297-fd95-48d2-956e-5cb477f17a1c phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_gene HGNC:186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28823388 uuid:449ad1b7-34d1-481b-b846-1d9ef75b1129 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:0d384bc0-dd1f-4a9a-a841-2138a8a0ba60 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:ddcc9539-6ef8-453a-bfec-c29e9469291f phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:15839049-ed5e-47b5-964c-0def5839aa43 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:794fa842-8b73-4382-8c3f-cd7007b081f8 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:28830446 uuid:533c7fe4-6b67-44ee-808d-4ce3d452a32d phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0005197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:28830446 uuid:c55a43b1-09d7-4ff5-8f7a-ac9238cf8388 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:2038c687-240f-4cdd-978c-0ea833f775c5 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0033833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:347d7db6-c568-4d4b-bf2d-03e59c8d07ce phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:c8bea527-c966-4268-ad1a-0af4b379c09c phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:72011bdd-0412-42dc-8071-45ee525fdb4f phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:a7e01c52-5759-436e-b786-bf171dcc6497 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0000623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:09e16ae0-e779-4d93-b539-a99d46bf9bdd phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0012246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:5b1c74a6-227c-45e1-8810-fac4313d14eb phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:5402ad9a-0cbf-4219-b9a9-2736f942277c phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:3398ef3f-ce60-41cf-ab7e-d619a0bf59bf phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0011107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:9174e641-b990-4abd-99b5-54db3c7ec33e phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:59f27906-70f5-497d-aa20-562e42913646 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_disease OMIM:615688 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:28830446 uuid:aa040cbd-622f-46f4-a742-90c6645ab73d phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_gene HGNC:1839 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28830446 uuid:a250bffc-153d-4999-9193-7554a6268be9 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0010702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:fc4d966e-ce30-458d-87ab-56f30cf6f7b3 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:b1f8856e-c356-4152-bc5d-d5c38152818f phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0025528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:3848a37c-463a-4e58-bda0-981c62666220 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:585f92d0-4f03-41a4-b6a3-d6676e285d3f phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:4749cc6e-0075-461e-8b9b-0b2041d75d25 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0033833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:8d861e2d-cca1-40dd-a429-0feab0003667 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:0433d9db-e9ec-4880-b5f0-1b7ee906d5f7 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:bfc87982-80ff-4404-aa23-f87924ab0291 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0034056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:0da16916-fb70-415a-8c6e-634396e8d256 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0011107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:2da01080-012d-4ad6-bfa7-33bba135719e phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:44101574-8628-4c98-99cc-342459c5fae1 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:651a4fea-6f29-4f8c-a356-be0e2bb959e9 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0005197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:3fefe550-dd9d-41fc-8eed-49d52715c902 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0033260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:94a9bdc9-8920-4874-8de5-a4233f7cd170 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_disease OMIM:615688 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:28830446 uuid:fe8ac089-cfbe-4d40-9778-7e3d6e6df59b phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_gene HGNC:1839 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28830446 uuid:3d509e0d-8fd1-420c-a3b3-edaa05d1efa2 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:f19d93c4-340a-4a30-ba2b-9e985f359ee9 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:5c635de3-668b-4518-80d4-77f2ff755af8 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:07103d2b-4d9c-411d-b7de-26f5d124cc18 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:e8291110-e17e-4a56-8866-f4029e4a24d5 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:51b11079-58e4-4c1b-92a3-c120afff49fc phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:a992a300-ecef-42c7-8d68-da850db5831e phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:8db4a43a-4126-46a5-af75-8e3d23010295 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:f3f30349-a83d-49a2-82e6-e286785b2529 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:15d6fea7-ebba-449f-8438-880e08146dd9 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_disease OMIM:277600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25469541 uuid:17fe1656-0ca1-48f3-89c2-3d0e5bb5c53f phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_gene HGNC:13201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25469541 uuid:ff07cca8-4091-4c6a-aa29-f1f3140d06a6 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5a340556-14bc-4aa7-a96e-81b96d87bce4 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9b04872b-0bab-44a4-a208-3b858c6d8327 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a22a96df-29bb-4c0e-a3ec-3dac61d196da phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d40ef5d6-98a5-4485-902d-b2b406e5e9c6 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a3be05b5-6fc2-4418-a728-dc7e8419ffb9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:500256fb-f40c-4c0f-8691-7413989c73a9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c2effed5-ea34-46ee-8f17-b3253505cebe phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d1af42b3-525e-4a62-9bf5-1e1ed270e0d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:f807d3f6-d050-47eb-8d37-5e01e6eec3e8 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:eef23f00-3dfd-4ff4-9b2a-9494f9bc5b0b phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5be69bbf-dee1-44af-8b6c-ed3bd3195d73 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:77ae503e-50e3-48a4-8d1a-81ace54f5016 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:94283b9a-21d5-46b1-83cd-a5546b2113f2 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:49428e87-af98-4361-9514-8b1d211801e5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:2ecb2dc6-4632-46dd-a2f8-e8e32b28c982 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:f501c1af-45f8-4db6-8a8c-de1164c902ef phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e0f63347-30f8-4e96-812e-7599c31031fc phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:9a0e3dfe-1a80-456e-b1ae-e9ff622bc5a2 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a2118ddb-f981-4613-9188-707768200835 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:70603570-ba2b-4bfa-bf21-0e6adf61c247 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:5a02489a-985c-48ba-8a00-2b2ea056de72 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fd30e85a-c3f3-4ed0-a49c-ed7d1ec92d74 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:8c0cdc23-1fd8-411f-88f7-ccd52b573da0 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fb8c126d-9949-45be-abac-b266855e07ac phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:eebe4557-2c7b-49aa-b61e-743e7f05c6bd phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:222699fa-9c4f-4870-8e36-e87a2a1a8fd5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:3309f45c-e0d0-4dcc-9802-4c983164afab phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:89e50188-d97e-4fd6-b4e7-77493aab15f3 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:855d6636-a4be-445c-b3c7-0721ada97d84 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b67acc3d-ccdb-469b-a36b-d6284ff807d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9ed2f7a6-c432-4d43-a7bc-329cdf05669b phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5efd037b-2d05-4f9a-86af-078ee73458c2 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:09098db4-38a6-4fda-a909-33a338f034ef phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:19ee4210-2549-425e-9538-968ac4c31383 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e0682b95-5cc8-4145-92e6-1e9173b3839f phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:0e678a95-da34-442b-9af1-702636323818 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:520d9cec-b100-447e-b378-d45a648128b5 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:8021a96f-e524-4657-a11b-3d2153e2c225 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d649fa84-da34-4cee-be8b-c072e9edf11a phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:befacaff-a88c-420e-850a-5d672dfa37a6 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:203d0cbb-ba0a-4e1f-ac56-2c5ebd7742eb phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9e863bb8-89c8-49ec-95e0-8890ab0aa48e phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:f79b00d1-ac6a-4841-b66f-b90177c3a86b phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5770e157-dccc-4b6f-818d-84f60dcca53c phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:4dec88a2-3dba-43db-8404-51478f23fea5 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:65095c59-ac90-48e9-9f65-46c3dc009a73 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7b655ea4-ded4-40eb-8b74-858c4b0c60cc phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:ac82c59d-2540-476d-a5da-3efb1448e28f phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:221aad30-ce92-41e6-a5ec-52b8701a40f3 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d1a8a172-ae4c-4c56-9008-c7c8a92ec963 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:8839cf55-9ca9-41ec-a218-d8d6ea645100 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:f4e9e52d-6541-41bc-a770-3f6014966473 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:dd6c7b8a-91f1-4393-b8eb-819c1f60b054 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ed812f51-88bb-491e-9b8b-04df80ba15ef phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:92abf854-6f76-4275-99c5-4610fb36a493 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c1a95ae0-41e6-4edb-9bd1-d19d9e72a186 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:91e37bdf-f10a-466e-98fe-6de6d336f2dd phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:7f51d0d3-91a2-4928-9df4-2655f146f37b phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:cd91cb15-d7ea-45eb-9d95-5e0d11f83627 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:44ca4a95-e5c9-4f72-9168-ff90d8cc7d70 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d684f5f2-2df3-456b-9b29-ce1bc3ad01ee phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a45dfcc3-9da6-4206-8b41-d3710a602eb7 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:dcbda677-561b-4546-8acc-aaa9a38aebf8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:40eb2ec7-0a1e-47a8-aa12-6a6e6fa2c546 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a3ced95b-9358-4444-b557-c55874ab408e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:50bebc1c-6848-41d1-a119-4eeb4c1b8b45 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b589b717-8d52-49e8-babc-a765d6ac60a8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:2b963fda-ffda-46b4-8d9d-7d5247d3acfc phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d2ada83b-4fb2-45f0-a7c9-d5a22dde154e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:de95a607-cc40-4481-9e86-5a361b7dfe0f phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7da37984-9b60-4ce4-88f6-2d5475013118 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b7ddae2a-22ac-46a7-90b0-05e0f0d872b8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:615156ed-ea56-4858-a5a2-b4bbff2c4b98 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:31b26c28-a376-4c85-a559-a33fa0cfa372 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:67d5c917-8e40-483a-b5c8-a671d37f5c97 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fd4a6992-05ac-4253-9292-dad9ffe3596e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:72ba484b-9fe3-440a-a26e-45bfe77506c9 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b42b0604-d008-4569-b310-2d4206570b2d phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:45431e6b-d631-4eed-9466-e38c9b23b88f phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d68029ff-477b-4557-985a-cc10c7b26e13 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:92ac67b2-ad0a-40f1-b52e-2683741ff0d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:4273f165-315a-4cd0-bdf5-836352198890 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:fab83f8b-ec4c-45ab-abd5-175bf2cf65bb phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:885a1e02-0d6e-4d88-80e5-b98e757d85cc phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:4589442e-9475-410c-a4bd-a09099acfdfd phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:2c2c73d6-0d6c-4dfe-b6ef-b030b94e9ede phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:3e56b35d-a0c7-44f9-b903-c8a3861daef1 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:00ae4c5b-6eab-4b2e-9f78-c91b9025f843 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:6f3bd318-f285-482a-bd30-a48e788a3448 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c0e85897-8170-4df3-b232-bc4db729939f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:1182050b-e777-475e-b41f-57015213ca2f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:61155343-69e6-4bdb-9561-70f3976398fe phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ba95d58a-1945-4610-a373-0363722c8b39 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:014451d1-0dda-4548-aa6b-20da053b469f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:53a9714c-38af-4acc-9a18-8f61197652dd phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:00d6f7f3-b0d7-47d7-b961-59f5b94f92f2 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:cb7abf65-bddc-4a2a-b370-34955b9add62 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:31035f3f-a7e0-4afd-91df-660c78331f96 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e5312404-1ee7-4c8f-9d66-bc2f08a3d5c6 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:f28714ec-5fb6-41cc-bfed-093fcd183547 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b3ded29b-2454-4d53-a811-b47b7cebf4c2 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:0fc4722d-72b6-4f5a-972b-7b0c2e5ee0e3 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:30557c69-a476-4102-97a8-c938221cbab8 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:cbf56960-a53b-46b2-a934-9a7ca692331e phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:c09f84bf-45cd-4b67-9e34-7a30ad2ced54 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:74fb27ef-1cb6-46df-b7c0-808709fc9b96 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7c934161-9f9c-418b-8092-046b5b445346 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:024a29e0-50fc-4df8-98ce-a90fec5dc1e1 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:ef82f178-0809-441a-a4ac-c68f529aaf29 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:f77367dd-5b1b-4c1f-b56f-afc7bb7e94b7 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:07e0d200-d9b0-40b9-8028-229eb4d6310e phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:74ef0a8b-b20c-4d0b-8488-7bd6cfeeb2c4 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:1245d805-8bea-45f2-9323-358ffcd1eb48 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:76c170eb-9654-4f95-a86a-1b4c1da40938 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:afcf90b1-8c16-4f89-ae68-c7822e6d32bc phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e271a180-1f9c-4024-9cae-f2a69dbac1b7 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:bb679d57-aec2-41d9-9493-a5fcb886d89c phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b0e60e29-d6fe-4fec-9750-9c82226ee7bf phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e51d26b4-abe7-4f66-aa5a-37183f9aedd5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9f74a345-195a-4920-a22f-3a54e9799a5f phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:fa3d4bbe-07ef-4e71-ac4b-b3d35315e82b phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b60d75c0-66db-4b6f-aa5d-6ad7ff867251 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:0b883e64-88da-477b-b5af-83c4fb434928 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a44f7c53-fdd5-4417-b9a7-aba599b5c03d phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:3753d4fc-8226-44b6-ba20-cb22167c7b45 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ddece916-a466-4ab2-acb4-78c44d9fd5e9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b13bdd0c-8c78-4f14-9ead-f85c08c07049 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:986000df-b2f0-4c7e-afd3-93013f4ed403 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:08b5cedc-1c07-4ab7-986b-bb4f6f4144c3 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e7074000-b843-4f66-9867-957544cb6553 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a163fae4-0611-41f0-954d-17eec3c9ef01 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:46d9e6df-2d04-4842-97cc-ed598176ea00 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b5927e13-9ce2-4f14-9689-46202c45bd5e phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:9ca6a077-c1f8-4c86-be1c-2beef9ef9de7 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:73bba686-4f4d-412a-8182-60fd24e5846d phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7a1d1855-5237-470e-8d5a-9b52ada6cecb phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:4e48faba-f8fb-46b8-a609-02536aed5a2a phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:afa36eab-3461-48f9-91e2-c85f8e341610 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:0f65faa5-90c2-4845-843d-01619ce73b7c phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27057656 uuid:54e7afde-b558-40c9-800d-5cdc7283122a phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27057656 uuid:1aab4366-21cb-4b82-9e33-1e5ae9ec6e3f phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:4f47012b-7caa-4e2d-bb8d-553c46ac3ad1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:a21b1c25-361d-4c77-9408-c8333d69e999 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:b0bdd544-12e0-4704-ae58-07b8b63f6b23 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:773cdd70-68cf-4355-be71-53edb7fa1f8e phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:9082723e-8436-44f8-a2c8-dc6a34837ad7 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:03fdaf47-b984-40f2-be13-86f77f6e05d1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:eaf6e97e-b5ea-48b3-a9a0-4f755f8f4f39 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:36e88e23-cf8b-4b4e-83b8-15134a9e968f phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:74d2ea30-23b4-4344-b06b-622b841380de phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:1e9b3fc3-53d4-495d-af13-64398fbf1fa5 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:8485a751-6c14-4c4b-90fd-a65f2c2f98ca phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:892f7d39-6ed7-4201-85c8-59937b98df61 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:30b7188f-7ccb-446f-b4b5-bab2c774d9fd phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:8160d2e1-c4b7-4fc3-b0e5-926ec468651d phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27057656 uuid:4e936da1-756a-4340-9191-87a528624227 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_disease OMIM:231050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27057656 uuid:1c45e39e-e972-48ce-8b4c-f31dfeb883e1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_gene HGNC:14631 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27057656 uuid:6ee6c53b-ca85-4cd5-a8bb-da2def8ccb4d phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:0dce7c97-a64b-4c09-834f-5e11587587fd phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:1ac8335e-3463-4087-98b3-ff4f360a28e8 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:df9dcce5-2cf4-49c2-868b-59ba7d6bf7fe phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:7a22f756-efea-4a5b-b62a-da7d869beb0b phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a12ed263-1c72-43f6-94e1-0654da72fa46 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:aef0c199-c4c4-42d2-b2cc-416ecbdcdce4 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:685548c0-7979-44f0-9a24-a6f74d557bd0 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:05981e70-bbe5-40ab-a74c-95d06a548bee phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:4f7c5471-d2fd-490d-8479-48cd595ffe5b phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:0dd4467d-4377-4dc2-afd0-fb5d89eb431a phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:e320fa32-681d-4c0e-b5be-4d28bdefbc95 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:ac8fbe88-1a27-4424-ac63-0f3103b9445c phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a9888d9c-8ee8-4128-b6ac-5106939b0bd8 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:b4cdf774-5143-4d25-bf99-8be42239fe1a phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:f34f8974-c6d6-4985-9ce8-63e9ec44c490 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:b99c9cbc-c340-4e91-beb1-7cc2f843c613 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:84e03a4c-9812-42ff-9b3f-1955f71a1b9d phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:3a314576-6c03-427b-bef0-ac9e527af9e7 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:9534109c-7fa8-4187-8bd2-c285c68aeca2 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:762fca94-5633-4750-842c-bb883e02bece phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:4b23c049-db0b-440f-9b22-2ea768af182c phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:8a7ff298-904b-4ec0-9452-80c9bc1696db phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:24f3bfb6-77e7-43c8-b517-291ca78e1aa0 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:0f74f1ff-0d31-46e6-aba0-9b384d509e03 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:1d39ae6c-a523-4900-8f97-065c6c557dea phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:6dc257d0-135c-4fe3-bd14-e0d4af154da2 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:389d6250-ff23-45a4-a614-ad39db59ff44 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:add12ec4-d25c-4700-859d-dcbeca6a2863 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:6b5142ca-c26b-4888-954b-c6ed2c5d1cfa phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:bfebdbe2-7aa6-4679-bd64-b20a26d704cd phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:f0dcf670-c4cf-4eba-b86c-2cffea6f1aa3 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:89a2338c-b6b0-4e7a-92cb-023b29d358eb phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:2e3b482a-0846-4b88-a70c-f2485776f016 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:d66e548f-b3eb-4e16-b454-55aa2e8ec216 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:88a53b75-0829-4394-ba1b-71b04a3c2c8a phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:af37d495-f4b7-4b39-b596-9556f8e6ce8f phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:26f20a66-6b3f-4c3b-a1ea-37d3eedfac26 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:76f90667-38e4-4afe-b69e-8531c0f7f67c phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:4b7b8342-f33b-43f3-895c-f1b4c8a0ee16 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:6cbccf90-3bef-44bc-b055-6ca342ca619b phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:66e32ea5-a12b-4741-87be-6d9c10c388ba phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:5ab338af-adb6-4b7b-87a6-e4f531fd6045 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:027eefeb-bd9b-4ee8-af11-30cf6db836e2 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:d5022921-d4a7-4855-aa53-7c813727153d phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:42224169-98be-48cc-a56b-aa563d1e2959 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:865fbad5-9e0c-4c8d-8773-1b269016fa30 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a0ed6bf4-45ea-43f0-9726-004da1e927b0 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:e60886df-a217-4a2e-9706-9e12b6635d09 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:ad487626-99a6-4c32-8935-ebcf24645b4b phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:12264d20-b605-4837-a619-9c9c5d8473be phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:a2fb4dc0-01e1-4e1e-91df-3848cc0efaa1 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:b4f5bb20-fef1-4052-9506-c99efa67d78d phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a871015f-d80f-4d55-8730-b7918d032b97 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:98dc3851-2920-4e63-aaf8-06c024da5ee6 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 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phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:27376152 uuid:5e194db7-1562-4a2a-90e3-20ea0fc84f01 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:27376152 uuid:fae3bbdb-971e-4ad0-8a73-9c0fae6c19b2 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:27376152 uuid:9761fc76-83b3-412f-9f70-cd816d303c3e phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:31d45f68-6d30-4bdb-8958-a250707ca548 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:65ee4202-13d4-4d3b-8999-c83a53b0ffd7 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:ba5e04e2-bdb2-40d7-9cc7-bd476856171e phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:b25fffb6-e7ca-4c19-a60d-d44cc1efd892 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:6c665658-9df6-447c-9bc0-cad7f112158d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:1fb46ed1-fc12-44d5-a91f-093fdeba705c phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:d6e7e82a-76b1-4473-8211-2f4e2f3a96ad phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:4a00b58b-a7ca-4d24-96ef-8e5da6536dc8 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:4ab2b500-1cf4-4956-85a3-849427bead37 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0025383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:27376152 uuid:e94726ff-aa3a-4b4b-8602-2c4d68cb8015 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:27376152 uuid:a128ef62-cf51-4150-87cc-9e6acacb3a7a phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:27376152 uuid:8e4f8ec1-785f-4132-9346-3dbc3d18e3c3 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:27376152 uuid:1323facc-0447-42dd-9256-408a3873d9e6 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:b5553f91-80f9-4cd7-b4cb-613b0452be93 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:4988513a-410a-49f6-8fce-c5cac0a65bc1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:d4705f66-8d0d-4162-b381-a0f376662581 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:94ba2345-155b-4df7-bf28-114ff275c077 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:2512b6f7-8f42-45c8-8291-75a30c339751 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:c22da5e6-279b-4216-9c7d-a38e9838a918 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:66fdcae4-b198-4241-b40c-f8d4b6995d70 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:d7bdf99e-ec6f-47c9-9d5c-0609bc81a994 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:1b4bedba-0c96-476d-918e-89391c3b70a0 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:a727ad4d-6c48-4b1a-b8ae-5a5e51a7978d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0025383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:27376152 uuid:fc99c45d-13a8-4410-b090-e6e0f590842d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:27376152 uuid:97a13b1a-0503-4f0a-9392-e4108f528716 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:27376152 uuid:926545ae-69da-47a7-b96f-831529cb40d5 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:b1e07932-68b5-4863-8419-dffbe22fb606 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:fee8a807-708f-435d-aed5-426047f7aaf1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:6b10ca50-a5dd-40cf-adae-ef70fc985f89 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:37371916-3b10-41c8-8f16-68a9bb1237a2 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:f1435430-cc55-467f-a310-f2cc94c965b5 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:41bb036b-959a-4b6e-87ea-0e073f9de3d1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:f742c232-628c-4afb-9fc9-233fe111d063 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:58026173-181b-4ba8-8b5a-4fb83e0adbd8 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:9e904398-4a05-4e50-83b8-e901aed3cb1c phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:d10a841c-09bc-498e-b959-2269561709a0 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:2f4e8156-23da-4a32-bb61-24a1ffa862f0 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:527d87d1-1625-466d-bda9-bd051d12361d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001822 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observation False infores:phenopacket-store PMID:29606302 uuid:eb71fe95-f705-40d1-895b-63b9f76f8b42 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4e33d63c-116f-45b9-8624-a6728cf98177 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0f63bbe9-628b-4d4a-8236-4a43f8ff356a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:570398db-03d8-48d3-b236-9776780541f0 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 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phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:d6ab4c14-af53-41a7-ac7d-e1ad4dcf54df phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b50057b4-024f-4fad-bdc4-12724b2c5320 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:742f88b6-2927-493c-9d8d-ac3e0b65025e phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:1fbf3df2-bd16-4b82-a6b0-b4640813c5fc phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b814c4ef-e8b1-4b7f-82da-321ffe4791fd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:f21f123b-d921-4ad4-af9c-5b4c20a316fd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:66ce1249-369b-4080-ace7-09ff2d1cfdef phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7c786cf9-65d8-4f4c-bedb-495639afc755 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cab6d836-2f52-4845-ad09-7ed83dc0447a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:c7022198-581c-47d0-b998-051ded1b6e91 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:f35b144c-1055-48db-8f88-7eac44d69a96 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:a9e9f293-7295-4471-b244-29b0dfc39a9a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7e8ec854-00b6-4cc6-9f3a-0dfe37d45cba phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:27baec7f-d485-46d6-90c7-359a779088b2 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cdd7aaaf-caca-4e47-8bb1-9375b13fbfbd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:0f3c3df0-b18d-45f4-abec-5b8a83645090 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:8439fc6e-e80a-42be-8ea1-cde3c696d035 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:414fd644-2f7c-4e6c-a312-f6a2c8052e5d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:e52e5dad-ad9f-4c81-8fe5-f712f44dd07d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0010562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:528b1b8b-48b5-4a05-8120-e4d2e7de1b4e phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:b9b136c3-582d-472a-853e-5f99f4e58d3a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:bfae80e9-97da-4fc3-aca3-9a1c6dc60cd8 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a8e65a00-1e36-4d13-afc4-72fa642a4f9a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:97fbdb38-b354-4794-9978-b29b0bed630d phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:473be083-4fbe-4597-b216-7d4f16bf88cb phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e5ed9712-74e0-4832-b4d2-85dd1dddc4ef phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:609897d9-5b6c-4397-b4a2-a2fe4ac09c18 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:c0ae2c1b-d4ab-4841-8ee3-bfa45e15be4e phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:dae521be-2c0b-4438-9c03-837fc434acc7 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:f0eacf43-8b26-41c9-b0dc-1eff76611c93 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b5f04751-2e48-4c5a-9b05-6f20f5d07de9 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2c7c888b-abbb-42a4-a47b-a8666f163a70 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:da3549af-2aef-4e7d-be8f-ccf54a88c2f5 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b7541001-cbdd-4471-9ae0-8e2e7e55bf9d phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0617b60e-9e31-462c-b51e-bd84f7f80876 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:683d9bbd-f22a-40bf-b1ca-092348c86273 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2078fd18-f454-41e4-b83a-8229c5965e7a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:5cbc7b60-d2bf-4fc8-af23-e61bb3d60951 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:d94fa35f-e9ba-4725-a935-39450cd55b4c phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:3e32bd65-bafa-4e04-b142-1c016692fff7 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:3781ae2b-0621-492f-82b0-9fd13b13f4b5 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:21bcb2c2-bd60-4b11-8d9c-9bc6d93dfa60 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4a3b227a-b765-4c83-8c6c-bb8ab82a6fa3 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0c11ad16-ffba-45ea-a5bd-14522461aacd phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4d59c3ac-a6d4-49a7-b67c-f7c382256c37 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:990d59ef-c71c-4c00-a52e-77052781180b phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0010562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:506058f8-829b-4567-911e-185f85ce0375 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:6c7a5498-f76a-414f-b239-69d55865c932 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:21225f14-f139-46d9-a9c5-d077ecca7cc8 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:3a159e0c-5498-452b-bd98-2762db0b0cb0 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7ac16c5a-3e5d-4790-86f4-2e04a4036525 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:8fed0a3e-2c92-4589-828f-028bae8cf8dc phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:bf5a7016-4388-4044-9c50-1b6816b66998 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:d61e936b-ca8c-4565-8123-88aaa6aea20a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:c56179cc-846b-4214-8fac-e50f48bd8634 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:4f3834bc-c9e7-45f3-a63f-54b2dd1dd2d2 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:44666ff3-93ca-4b81-912e-3e2bc843b11f phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:e167f1cf-b1b9-4c4d-884d-40c4d1da5246 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:7ff4f7cb-b859-43f4-9e09-bdad1e3874a3 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4db31950-9cf0-4b3e-ab79-18697bb6cda6 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ccbae933-528a-4861-9323-41c6f140098b phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:67b48877-da41-4015-8eb0-fb6f551e1a26 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:13e999be-fe97-454e-89c8-89f91c5bb315 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a1be7447-bbf7-4f71-af41-b70e4d06061c phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0004602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a208d41e-b18d-4add-ab54-d1668b81ee52 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:8b10bfe0-7d79-4fe4-bd79-b99a2b258a5d phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a776ffc1-d925-4877-94ea-100262dadc5d phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e3433b1c-2fb4-421b-a328-fbb925e97556 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:7cdfae35-7501-4417-89d1-e716c7170427 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a7067e09-80e7-47f4-9eaf-8e6480b43c6c phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ca540276-982a-4a8e-80f9-09ab70f3f12b phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:201ac50b-c0c4-4f14-8a29-0dd0b62e57bc phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7ee2de0f-db74-45d1-a399-42797855faa8 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:70967552-7b68-4d9d-8583-e347bc106b57 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:b4163b53-64d1-46f0-979a-afe7bf657e84 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:732a78d2-962f-41cd-b2ae-b26c47cb01a0 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:ec977941-976e-46b3-81f1-6706a5e569f3 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7cb658bd-c646-4c50-8e17-c0f2841ee7f4 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:9990101d-6e2a-439b-a256-0c212618c3b7 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:baff7984-b763-45ab-ab3b-7541fe0b87e4 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:f859af79-14b2-46e6-b33f-05eea002e519 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:5f4783a8-176b-4e84-9e5f-a945092dc59a phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:38d7bf33-9d57-4475-bfe2-719efcd1cd2f phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 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phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cf849560-f6ac-4c42-9b87-a4506932370e phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:0cfeb928-9370-4827-b358-8b0bf4dbca93 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:9d09087c-feb3-42f1-a8ca-7adf2d0f5eed phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:7cf0e3de-2e45-48e8-9c64-4afce3d51830 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:bf317830-f0ff-42f7-abca-943a28cd47cf phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:b841a75c-8333-47fc-83ac-e90b3c5051b9 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:30759870 uuid:bd6670a8-9714-4cb4-8dcc-e8737b8d01fb phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:ba95af72-0198-49ce-9dcf-2d7bc5978404 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5fe620e0-7796-4e73-bf84-4e7b65569a40 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:f67adfa9-99f2-4c7c-b15f-8357435c91e5 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:74e1e12f-c72f-468b-8d71-fdd0cceb9349 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0031158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:bb28d978-4a5c-49a8-8f33-7c9d9e445478 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:31e9099d-2cf8-4c40-b2a7-c2dac604b592 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:42e3a67e-d55d-4487-b373-ea6c6726e131 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:8b15f5f9-69b1-498c-8898-8c57ea68683a phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:34af47a8-d2c8-418a-be91-200140731604 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:a894b1e4-b90c-4888-94be-399bd9d26aab phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:1117cc17-7876-4052-b2a7-3c7b0f312647 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:48edb853-ca61-4db8-b06e-8db0f6182ae8 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5ba6d553-7cb0-4c80-b3eb-e5dfb5e79680 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:0656d9a9-0d86-4483-a90f-a75cae7b2362 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:4b24a1f3-9689-4f39-b96a-8514e3e4ec06 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5abd1169-f64f-4ec8-8a82-98ae07a13601 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:ad1e2998-3ea6-47e5-824b-c11cd97792ac phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0003419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:a6e13325-708d-43a0-a16c-492168fc4589 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:afdd6fc2-bec9-4742-9988-0f8487b6f129 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0004417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:fcfdec8c-e39b-4bd8-a7cb-c10b4bc30343 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0004419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:1cb0b8c3-d0c9-433e-8536-ec604387cc5f phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30759870 uuid:5e88ad9f-9369-4db9-b069-8afd24b7aab1 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30759870 uuid:3a3cc29e-ae4d-4e66-8761-38afa182e194 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ba4269a4-a461-4666-a0de-56ebc7dfaf01 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2dc74ad2-e2e5-422d-9bec-0d62d7b8941c phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:15b2fef2-0f91-4162-b419-14b4b7591af0 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:cb5012be-b6b1-4e64-bf5d-62158e267bfb phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:dbf55188-8b38-436d-8248-f268a1c1086b phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:457fb831-9d5b-465f-9fe4-ccc420c57c2b phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 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observation True infores:phenopacket-store PMID:27148574 uuid:8d43a59d-39e8-4ecc-8655-108daad62462 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:938c390f-0a0d-41da-b499-443463b34a50 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1457e7f1-e440-4884-bde3-d12bf4eefd85 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6dbdc587-48b6-450b-af81-67c1641dc618 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:68e3d0e9-aeb5-4d39-98c3-2101efe3130d phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:5aeee0c6-09c4-4de6-abd8-34a9874c78f3 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b696c2eb-1af5-43e6-a6d4-fe3edd6c52b4 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f7fb1a15-88b1-42a2-a1fb-25836d669492 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:a6a4a65d-8450-4db2-bf6f-c0b7292c3f8e phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2b20a54c-c1fd-4805-99aa-8617c4a5763d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4f94670d-71ee-4dbe-b710-83611fa149c0 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:08d77719-8d07-47c3-b348-7026eecbeef0 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d186678d-035d-4bc5-92f5-b161da944d8c phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:73ce372a-78f8-43e7-a74b-fb37df3d26a7 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:9de44bfd-adf3-4fd9-81b4-afe1454442c9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:8956cf0b-d468-4068-a3af-ccc1768a0b5a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b44ddc7a-750d-4954-9af8-d0c757dd749f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:c8b606a7-f619-49b5-bf65-86374d079928 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:868b1449-0b03-4af9-81ab-20e110afd309 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:679e1f4a-a479-411a-b8e7-2c423d50c804 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b6f70346-09aa-45ab-af79-48c69a502e8d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:38ca0402-4d14-4c1c-b132-faa0d2cad910 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:a660d785-8693-4e23-a808-4ef1047d69b8 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:32afb420-fade-455e-a7a3-010d85e680b8 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:781e9814-426f-4a51-aab8-fcdaf3fcc70b phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:716226a4-abf8-4495-961b-c8e4c29b1e1a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:22c4ee74-f05b-4282-a120-e47601e032d9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:95adcd47-b4e0-40f5-b405-2b7cdc597d39 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:e2af3eae-c048-4c0f-a51e-605ed04cf8fc phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1b5ce7ab-2cbb-42f8-9db7-ee3b08105431 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1785eb77-82a7-444d-bf3b-565247b09adf phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:341d22e2-9c4f-4493-b04c-875eda2cc07f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:678347fe-00ff-4a50-b5cf-9c9917bd7a5f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:67ad92f0-df5f-43ab-8d59-aa6ae1ed4259 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8b857cb6-9218-4991-803d-eba2c1a5c851 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2838ebf7-a3e8-4df5-8732-8391659b8e31 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:aff00bd3-2769-466b-a062-dfe0e8f9a911 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:da963dd2-dabe-4d5e-8f97-53aa94c465c5 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:19d281c3-1eea-4b13-8b12-305cec604045 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4e604603-65a6-4801-b34f-02321f37bb0d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:bd756e5d-7139-4c2f-a090-ee5152ca46a5 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:eda5645c-2652-4ce5-bcbf-09795bac2218 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5504aecb-9b46-4cee-8640-e436cceb9c91 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:43367999-a007-489f-9677-40a781aacf1e phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9ee82377-bf61-4279-a864-afddf5f836bc phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c63f2bda-662e-46cd-81d0-3d7dedff13ec phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3d630f4c-f9f0-44d1-bed1-2eef8e711348 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8879fad6-1797-4f27-a434-836e2912af5a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:77856cf2-2c2f-4417-8797-dc0ea099a502 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:bbf1de12-241e-4ee8-8176-ae5e3b40fc85 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:68478b68-ab70-4f4e-af92-6698207012d9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:eb527cd3-e3e0-44df-8598-52557155ac11 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:30622101 uuid:59b09f63-8e61-43b7-a843-7997c3dc24e8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:eab6f9ed-8f4b-4b57-8ef6-9fce8057ef25 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:051546c7-c670-4067-970d-e566ecabaad8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:30622101 uuid:ac313cc1-bba4-4cb0-8f64-a42ce82cc5dc phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:d5362932-8779-4e94-93ce-a2e61ed8dd8a phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:57476431-2ffc-4a69-b91e-a0369d635911 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:42dacad1-168b-4398-8713-37e1cac7f600 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:020fd4e3-16d1-4429-83e1-99c0d27149c8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:d5cf9fe0-934b-4ca0-8243-bc9f64b199ff phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:dea46a9d-6120-490d-92c2-d352c60d1760 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:81d9899e-2b99-4e1d-ab81-5e4175929265 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:81a57945-47ea-4a41-828f-531f8a7f77fd phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:fe70f2c3-3a04-4a2d-ac64-9c42198715ac phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:24c6c38b-cdb7-48b7-a518-08bfa7e49eb1 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:37780807-a341-46c3-ba47-a13fac381590 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:440b9a4e-891e-4961-88b9-06393ad689e5 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:13f2725c-aa9e-47bf-b26b-2570ced0664e phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:df075ba8-2d7c-49e1-a074-24c858cf132b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:533d5a99-d890-476b-9764-53b37750d6ff phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:9149b9f2-5296-4a76-8c2f-14f9102f1afd phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:1990e86b-a479-4490-a74b-42e5a5bf3dce phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:ff75210e-947a-4be9-97a5-d3f9e359ffaa phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:316b4a07-cbd9-454d-b57d-58771c43bbf6 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:362cdd61-9b13-443d-884a-b47a6382ceb3 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:6e53254f-5ee3-414d-b616-16a7c6160aa3 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:400c562a-94fa-4e0e-8cbe-796c3ed3602b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:f03da86a-4459-4e16-9a39-a16c3a34b101 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30622101 uuid:c3d40e77-538e-44df-8f52-7a154cd1e40b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store 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uuid:00311214-7234-44cb-948b-81226c5bee36 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:991ed401-efe6-4425-8551-ce84d080f15c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3550efcf-5c8d-4520-8b0b-2336808d7288 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2ccf3aaa-4d78-4acf-a1be-4c4ce6b68eb9 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2f8455ac-c000-4d1a-a798-c44ccf05ae1c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:9c3e96ac-b062-4cac-b20f-9097f806d592 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d8ef6fc6-d763-4ddf-a0e1-b35a51e46e5a phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:163a6480-e272-4db9-8c57-0cb21d9c52bc phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3fe0135a-2ca6-4355-8da3-8b6e923253f8 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fdfcc49a-a8e5-4640-bc20-e116110ec2d4 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:83a68669-2d34-4c4d-aeba-f46576126a5c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c0a44e4e-2673-48af-ab0a-4fdbc4d7c975 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9c5eeb08-affe-4631-859b-c318327698a7 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:33a4ace1-8f24-4e54-997a-2b0449dcba2e phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9fa3a6d8-f42e-4f2e-9fe6-eaa7f0cbc6d4 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:de0f01f0-48b2-42a1-9ed7-e0faf1530a9c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8bf84d10-718f-4505-afc0-9d7ef87a298f phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8cf84476-8f60-47e2-837a-f1e7cbeaf9bd phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2e4d51da-b46a-4be1-868a-cc0843cfae4b phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:adbe80eb-36a3-4e0e-97d3-141f31f70b04 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:fee67dad-8299-44bb-b8ed-a6260777d0d3 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2712b10a-2c9d-43a6-8da2-9f1c92d924bc phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:46bcd2af-eebe-4bb4-93eb-d5e894723fa9 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3b995d13-5a32-458a-a42d-3fdf4c7dff4d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d022614b-5edc-4da1-be8d-03cfe3d1e8ff phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2a03ba7d-bb2b-4258-8c58-1feb21ebaa1c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:64a738b3-9399-40c0-8fb6-11e1d2b0e076 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:920a8a85-20c7-4b14-b984-5cdb9cb47365 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:03f0fc71-603b-4f9c-8577-bda68446002e phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b68587a1-61f2-4ee6-8648-eebbf5a1ef2d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1b5a4225-c6cd-4f35-a2cc-302dc4dc58c8 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3764e630-aac6-47b0-8813-317deea54f7d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4b4a9b07-ab22-40f2-857c-5ba708ffb5da phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:70ff8557-4ea8-467d-884f-3def91f6c7cd phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:286917b6-0eb0-440c-93c1-8d55cd4baa03 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:988c7b9c-c241-488d-8e8e-e5c943d47fb3 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:69249cff-329e-4d1f-8432-0b2d48ba9599 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:984a9488-9a30-452e-bd33-8f13ec82358b phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dd7ef3c0-7a9d-46c6-b97e-a6d340bc0d3c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:53dfd686-2c71-4b71-bdde-2ff067c30b6d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:aed22db7-b102-4383-90e4-378e3c9a8055 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d78c09a9-b396-4afa-9ee5-caba9caaa9cf phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7b977fd5-0369-49fe-8ae2-6b395ddfb051 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ffbae3c0-dd3a-4519-ba8a-ee749d653f13 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:3e58166d-1868-4586-abce-ceafb9267fca phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:27c83351-6113-4435-9ede-b18b991b331f phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:84dff57e-e989-4b1c-896c-a38e3ce9a823 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:df66d249-8b57-4ff0-9b6b-8682b9d78aeb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d8b888ce-1f9b-4c7e-8b09-43c3f30a5b58 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ed9f7f01-58f8-42e7-85e9-8d67ea79bac5 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e79df470-5929-4090-8381-25f82fe4c06f phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:35bc1bd1-fa3b-4c1a-9516-36f038b0a15a phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:20640fb4-0ea5-4c13-9a94-27d05d26fded phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:9db19ed5-0d3b-4e16-8262-f38fc287d229 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:65014524-4895-48f3-aa99-fdc642d9fd20 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:7a132330-5af5-4962-a697-17a5ecff2f72 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5d99295b-e47e-4057-8c29-cf5a0501b903 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2e8ad6e9-2e87-4e53-8102-2d1364622fa3 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1f759193-2018-4ce5-ae46-5c0123daa955 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3d143628-17a0-4301-8a01-272ec93921b7 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:13e4aa19-d82c-463e-b93e-b84251c3fac0 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:20e4ef91-770f-4f48-b3bf-8783e707e78b phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8b946729-769a-49cd-a633-24f6b59a6410 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2cf122f2-8bb6-4311-9712-15d2171bb037 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ac416409-4fc8-4828-aefc-8086d3c583b4 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2e80b869-9eaa-4f4c-ac14-3c09f5743218 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e02ce1f3-381c-496f-b09e-ac132a0b3de1 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0c22663c-035c-4c0b-a206-f4beb2221f09 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9fa3bc18-992c-4ca5-9707-16f95e185c4c phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d60df84a-a1b1-4090-8f27-b0f115dcb6bb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:cdc432c2-77e2-4ae8-a79f-24df0fb60831 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e8d9d50a-8b31-44c4-8555-d9a716946ffb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8ac7d00a-3a63-4082-8c4b-24fc6452b6f9 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:ed41dd09-d995-41ef-9b1d-ec9b0b3587b4 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:6bc2b412-6607-4813-a4ef-f5f426632caf phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:43a75a02-4cab-4bdf-98a9-d3a19431c4fb phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24791903 uuid:bd6aed23-fa0b-4a26-ad08-2ded97b6c099 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:bbdfc47b-1243-4838-bb00-f6d5a22062fe phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6f3f07ff-1743-4f42-ae43-914f42c9366a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:63acd413-e99b-4245-bf5e-00881f9ed553 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3a1bd25b-e34e-424c-aa8a-5230d1bd0a3a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0007269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e0fa28f9-446e-4803-9393-59d90989719a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:fd7a7cab-6aa6-41d4-a216-124a39300296 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b7396961-401a-47d5-b267-58dcdcbb38a0 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000729 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manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:43d0a111-f8b8-4996-aab1-ecccb7a0dec4 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:eb0c641a-1768-4280-8b7e-4f41d946e7f3 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3e4cb086-bbba-4412-97c2-09bcf2a78e35 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:aff4f50e-5b63-4b41-87ca-6db6fca3e886 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:60de479b-983c-479b-88de-10b3621b29a0 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:38dead9a-9aee-493f-b9f5-6d1c35752de8 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:fa7e4edd-478a-4960-ac75-921171d10be5 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:0224b0ea-35d8-408a-955d-7fa74cb4a644 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 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phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a2858926-ffd5-452d-9b33-b4a927f8ab52 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3650719-f3f1-4a89-8884-b74edb0e69d5 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9a4ad981-1655-4121-8a6c-95c04d2afd74 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3d584c9-419f-49c2-90d1-3600e9b4e988 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:112195e7-cb78-4137-b6a9-f6392e64d2db phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:74df98e4-fd03-4715-8674-6b4bc3f56e09 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3755d76a-b6ce-407d-b6e1-6204b5add721 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ddd5ac85-0b72-4bc7-9573-5f9bcdf99ff3 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:7fbad522-6441-44ba-a785-230d97042f74 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:30afe4d2-41d2-49ff-9cdd-1a579f115a3c phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:89f6e687-787d-4379-91f8-29ad8fdca97d phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2982ab52-f8be-4063-93ce-cc0cecc468f8 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:5728c758-6c8d-4609-b99d-ee328c0afb85 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:27ac25d9-be00-437a-abe1-d291e9ccaf66 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:54e9cf7d-8ff7-4364-8810-3ef798b74f17 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:a746dbc9-d3c2-4e0d-b97a-1d17207b6f32 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:32256298 uuid:2262f126-c630-49b2-b9df-e736dbd4cfb1 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:3a53f0fe-ad14-4ba1-a4a2-00699603a18d phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:3ff7d0d3-700b-480d-8bc6-44df94edea2a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:d6b590d6-f2a4-4480-8877-c51f26cc3262 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:9623f513-a39c-4212-a52b-0c12491318e9 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:da1462d6-79a8-40bc-952b-44eb2c79ea18 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:1efb03a5-3dc5-4abf-92b5-f4942929bd5c phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:2405e16e-0d44-416b-9899-fcb8c0480dca phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:03a35dcf-3508-417a-ab31-d0cca677398f phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:16c27299-2251-4b27-82dc-23bbece122fa phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:546ef1bc-6c2c-46e0-8560-436a03bbbc13 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:6f97081b-bdce-463a-99a0-d7e2bfde1e67 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:867a46a9-923c-4015-bafe-21f4baf31db1 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:ba3c64a2-e2ca-4f96-8f23-90e0605c84d4 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:ed3bd5db-02d7-48c6-a54f-59b84a334a27 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:8e371831-5de5-4a4c-b5a1-2d5a94aac6a6 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:9a5d95ff-044b-4c01-9db0-d234d3fd2dfe 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infores:phenopacket-store PMID:35716097 uuid:f2a4b7b1-39f6-46ff-b6ae-f09e5bd99290 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:9b861e10-f02d-478d-adf1-9fb86842040d phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f782791f-846b-4584-8c45-db7cfdc7c0b9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7868f62a-155c-4137-a356-6ec50ccc49e5 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 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phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8d2245c1-ca28-433a-80a6-c6803adcd7c9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2ee5eee1-23b0-47a6-a5e5-7c1345b1af42 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8391a74f-3c3a-4f91-9b76-3198d7d0ec71 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7ace80a5-5aca-48c9-9e95-1ba745836460 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8c484885-6485-4064-9a69-e7e881c04a15 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f018b103-941c-481e-a9c6-0152a9acdd15 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:fa047e69-99c0-4bc2-9aa8-7703e78b568f phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:883d8de5-ef95-4c12-beef-06def74d7ce7 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:866cb83d-0a64-4336-831b-4b0b27a450f4 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:55a7ff08-2f62-4399-877d-9a073cb4e104 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d135569b-0b43-45ee-8510-5c4ab796e5f9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7f280ab1-329e-460f-a6f6-218a82be57a8 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:dc59cae2-9bef-45d4-98af-9f83fe9a0a93 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:93b9ade3-c49b-4917-9fbc-a9452790dea7 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:da11bcb2-fa76-490f-8cbf-e649b6a96641 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:b9ca7a74-e1cd-4756-84d2-e5602952fd8f phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:3673037e-5937-4eca-8a23-2de7b4259b20 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:99d2be96-5dc3-45a7-ac4f-f439c805e706 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc86aacd-bd2b-44ca-8a43-18a5d87a4c0e phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d595c86f-4827-4f86-a5d7-04186d59c159 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e58745c2-1af4-4280-ab30-48069e033544 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e45ca5e7-e1bf-4fb2-9824-a177016e64fd phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0011318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:92065e30-b70e-418a-b4ce-68f732a92188 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:70858590-71c7-4dbd-9d5f-380ffd2cf882 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001508 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True infores:phenopacket-store PMID:30152016 uuid:e0038842-03d1-4117-9469-e0e937a8db81 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d9bf99e2-4db0-4863-aaff-fa2cdafcac4c phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f08a5e2e-40f4-4f7a-ada2-9373091fb190 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:aee61428-a8aa-4a9a-bc2c-b2ee17179b09 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 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infores:phenopacket-store PMID:30152016 uuid:bc8c583d-6dbf-4ad2-bc5f-14f8a98adcff phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1dab9cdf-9286-4d75-8fdf-cd68f3ec1de9 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e260ca0b-db26-4e4f-933c-ff8b44aacb4c phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:08c3b583-6d50-4273-9353-d6ebe1942c98 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:b5325f84-6711-40a2-ba2f-098940bc87a9 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:cdd73cc5-233c-43b4-8837-b8831770874a phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:0e0e3e22-6986-4cfc-a561-32628c4cbf27 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:e9789850-ec29-4981-8586-242c03e1b5d7 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ee0da5b5-dfde-46f1-98d9-f43c91acc042 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ae0c7eb9-e8cc-4756-8a67-137a6d9e6bcf phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:25ceb5a7-3121-4257-9553-67fe275b3a78 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:c13ed381-0329-415a-a1c6-8939c91e02e1 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:0914351f-6fd2-4157-b34a-2ac9f5da210e phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:b9a5c651-557b-400d-b0a7-526d1f621c23 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:f2b21e39-94e2-4d96-a4bf-07ee8acf213f phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:cbfc1fac-98f7-45ba-a4a7-4b397c951bf6 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observation False infores:phenopacket-store PMID:30729726 uuid:b2fc9b87-8818-4306-8960-9ba2a5541e84 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:03eb7160-e217-48fb-9b6e-e77ccb71213e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:00300da1-fa4b-4088-b7ad-b35eaebdeb20 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:ecb96bbc-2d94-4aca-82c1-c6481f564165 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 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phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:e968f5a4-f040-434a-876b-3006a0a1b436 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:4ca8be1c-ee05-413d-a5e8-5cdc421aea1e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:8b8b2ab2-b5fc-4407-b5e0-d9ee3c7d598a phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:02a4589d-984b-4b5a-9c2f-49da01250389 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:069984ba-678c-4c1c-ae4e-01b9ad367425 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:75a843e7-16f4-4c21-9353-da0be3956aa0 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:0a98cecf-f46a-47a7-9e23-b8f28d101332 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:0ae476f3-ef15-4d6f-8716-11361c793a97 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:5ce6d685-df46-409f-b039-faa8a654418d phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:82a94694-9d25-4bd5-b023-5a0e50b6409d phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:2326df1d-0ce2-4239-a6f9-1f028b073dea phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:68af3b56-b221-4377-b9e2-657dd2cec4e3 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:2b14f5e6-0181-42b8-a98f-cc0dd7f6fb6c phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:354c8c9f-4bb4-4f99-a67f-8751be93ef88 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:cf90b09f-9ed6-4f92-a021-df703c3c2aab phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:d5606524-94df-43d7-bd0f-59b65d259929 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 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phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:cc4aaebd-f0ea-4d0d-b88f-67ee2252c894 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:20e74faf-7922-49ef-804f-ff9538fb38f3 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:4dbe6fa1-1647-4e9d-bd70-4776832ae666 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:039ef86d-64d2-45d0-afae-245d0e2fa4d7 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype 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observation True infores:phenopacket-store PMID:30729726 uuid:6759f86f-e143-4710-9cf4-afb88e82b4b0 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:be96a59d-d05f-4b40-ae7e-ea38711091ce phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:460c703d-16c3-427d-a6d3-b37cdc1a0710 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:ea936388-0dbb-4499-b7ae-de3356c9ddeb phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29696776 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biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:5906a59e-45a1-4650-aaae-104fe8f1445a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:f58de53a-1358-42c8-9d81-62da13aec79c phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:3f215024-2cb0-4007-9794-01c1ceb6256e phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b61fe664-a929-42d6-be71-899f89159f5f phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001251 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infores:phenopacket-store PMID:29696776 uuid:c30ea43f-fa29-4cae-bf6a-4f1b0211e049 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8534588e-ad23-480f-81ce-a2ca9f20ba6f phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7a94a177-74b0-46a0-8fb4-50ec22df3bf4 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:898de8c6-2e83-4ce6-82b1-959fc7ed937a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dff54dcf-01ec-4f9f-925c-87bf3a5fb298 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:93a84d02-d88c-4a41-8e63-8354927d3769 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:41ac8944-09d4-4b8a-bc78-ed517fe8395b phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0731f30a-3b1b-4247-8077-2b147f39aabe phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d2c00694-ca76-460e-941e-7c9b6ce5dcc0 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:11018abe-9a11-44ba-8753-f9326c45d7da phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:83486113-3f89-45e7-a7db-f8bf4891848b phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d9209b26-66c9-4fb9-9473-8df8444eb5aa phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c8512e26-2ce3-4f8a-b747-8d760c4094e9 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0000717 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manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:03010546-8000-432e-a6dc-e3c8a8aa1057 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dbc3c8b9-5adc-4aea-b929-7126d7a5ef00 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5fbad595-9ad6-4b34-a5ed-5094a57cfa3a phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6196bae7-cad3-4765-aa84-71585968efa2 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:20a2128b-ac41-479f-b4f1-024ab4d595c5 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:260bf928-8574-4618-bdd1-3995011ecdf8 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6c40d879-92a2-463b-ad87-15c28f642dbd phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:e8d68ae0-ef9d-41ec-bc8f-66fe3b00d8d6 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:024047e0-9fcd-4888-a546-7d2d3a30915d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:3470d2cb-8fa0-458e-a01a-f9cae08aaae3 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:c01cdd38-668b-4e73-8820-b0efdb0d8b2a phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d8284b3b-8c8d-433a-a78b-6c76b2e6dd5d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:35ab843e-6846-4f0b-93af-8ab2bd211d8b phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1f8dd8e4-6c6f-461e-ac2a-85c591373638 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a5d6ec6b-c7ff-4f06-9557-9d315569bdb0 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d01d39b2-ff5c-4e40-8025-7d4b03102888 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d1ded3a6-2af9-4666-b782-5a50b5e3cf2c phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c6a81edb-b2e0-44b3-a5d1-253197ed97df phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9d68be55-b92c-4193-b7fc-445d003636da phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a5a48618-e936-4f33-ab77-9109ac53b7a3 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:db9c227d-9671-4623-a6bf-05dd7011226a phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:084795af-c508-4395-ae5c-268108a6895c phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5fb94710-361a-4e01-b41a-db371833693d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:bdcceeb3-e43e-48c7-ad99-1783027b9f96 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d295b104-aa89-447c-a14e-ae9cd3153e0e phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a4586141-3adb-47f4-80e2-b8f12ecfbf0f phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:989c8032-79e5-4411-918e-d4517758d29e phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:513f7daf-3880-4958-aa37-c12890dff5d6 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:859b2737-595b-4fd7-b82e-da5d6fbef3b5 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:f264fca4-1f82-4914-b206-b5a8b5e55a6e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:969c2ec7-b0cd-49e5-a3d8-403440225dbf phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:4bad15b7-09fb-4127-a0cc-4e030d3c00e0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:76684ac0-5096-475c-9dea-44e2455b5c61 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:6a3c5412-7758-4f17-9807-6b37e187078e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7bc449b4-1728-415f-9647-58f0a60ca164 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1da1eec0-5e18-4ca2-988a-238a540a4146 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1a717613-b57c-4ade-a2aa-f98a49edb7cb phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:34736121-f9af-4ca1-8ffb-c71eb0f099a5 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:701a148e-0af5-44cf-a4d9-6daeb27ba93f phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1805e456-623d-4eeb-83f4-44e7b27ce6a0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:54699be8-b7de-4716-943c-ab5d73a5fd3c phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:bc4d597f-e55a-48f9-b78e-3225fcaead42 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:2c3cdda2-59ae-49d7-a2f3-728b126c9289 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:39fe031c-ed19-4c2e-801f-638a229e7c07 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:dba5dbd2-f3cf-4d90-a01e-9d0108d81426 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2295defc-d491-4220-a1a6-c0c040f3783f phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5443e87d-107e-4329-870f-c016c4209292 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:49c7a0ca-ed1e-4d6b-9b5c-bf78c4fa219b phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c4182c2d-dee7-4da1-8668-0ae5ba6f47c3 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:169036bf-6af2-4237-bf00-9a11875b4f1a phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2847c386-5aeb-4572-b5d3-394f2af517c9 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:29224163-4ef6-4cf7-b043-421f323a666b phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:abe13b41-634c-4da1-9a85-f8f5ea259a6e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a2cb222f-8e75-4d0b-b7c9-3c88b6adf1c0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:59de10f4-739f-49a7-ad63-b46a678993c8 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:633ac3e2-71e3-4ce6-95fb-6c0ef9c47804 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:377e9cec-f4c2-4aa2-9210-68458f6ebdfa phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6f13b317-24aa-418c-9e49-90ba7dbb6d44 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f28dc1e4-8d2b-4a9f-9ae7-b342f8367f87 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:774bbd55-fc48-4967-91a1-770535977b84 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:73659ab0-c184-4ce6-905a-60173f78460d phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:18f8e793-aa83-4b9f-921b-1f88c4d224b1 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:20dad48f-ceb4-45c1-94f9-340687401f74 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:10656b31-46be-4e79-8e9f-adbdb212c389 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:2616f72f-f286-4eab-ba4a-e0b7457669db phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:84983cb1-6ccf-41cd-9a93-48cf0f225e51 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:ee083b64-1d2b-4b07-b7b5-977c974226bd phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:c6acbb75-c202-4296-83ab-84f792930639 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:cce6b112-ad87-4e65-b783-944417c4993d phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:40174f0b-5b86-437e-9711-281f4ceb73d6 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:a72ed873-60cf-4d07-b38d-253071250efe phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f84b1ea6-1081-40c3-884c-565d2c4a2882 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:97880ee9-8e15-4b43-8d35-2dc974a108ae phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fba5aa69-e748-4bfd-9b00-07f6a54ae865 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:084f2be0-a40f-4b50-8800-4c6b91ed3430 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b5232099-8aa2-4cb8-a7c3-c7b440269e64 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:312bb274-f07f-4140-99f0-c7798af3fd04 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:1d9ab408-811b-44f2-8fd5-04f8565b1210 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:5482edf9-6e70-4b50-8c78-f4888f52a7fa phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:0ee1ddbe-07cb-49dd-b591-99d81840860d phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b9de8ef4-be98-466c-b7c2-63b805314f94 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3c65fb9c-fc7b-4767-a167-abe581cfe5c1 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:16dd9e95-5475-4cd6-b678-34894d738735 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f9f12d2e-fe00-4c72-ad57-6a1fa8f96613 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4d083784-1dfc-4baf-93f6-763509af7e4b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4aeeb0a7-a9d2-47ef-b13e-01aa66eecc03 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9ffdf16c-3e97-417d-a830-4e7d26f73d91 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5d57bdc1-5c76-4caa-8fbe-efc0ced1f7b8 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f11cb68d-e72e-4491-8ef2-9f1e8f0d3204 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4ea6ef09-5a80-4d10-8df2-94809e4903b8 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:e6e3473a-511f-410d-9f7a-bdb6ec17199e phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ff5ca48a-9ab7-49e7-85ab-5e9dbf417d82 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dc1c77c8-d7f2-47a7-93c9-ba4e1ca3046b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6ff96c88-e475-4baa-a4dc-15d4f754aac2 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c84eaf57-a3e0-4f90-ac2b-81c15b00b641 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:7c638f67-8dce-4796-b677-56054571b09e phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:878902d5-7908-48d2-9fbc-a53af4ad6b69 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:76e64b25-f012-4518-8db5-59495722f347 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:0a0d3703-f0de-4828-b7ca-02b690fb4487 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d1c7bf17-54a3-4ac6-bf02-122a57a2c243 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6b9c4b9a-8a2c-4f68-a281-a8b6b00ac10a phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ad29e490-1658-4d4d-8772-1b2b70f47afc phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ccab8823-bbeb-4519-b372-5ec2ca583a8a phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:478a766f-2516-4228-9882-aaa56ac80c80 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ee424e8e-6b3a-40c6-bed3-0b4f351e42f1 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dee301c6-b2de-4f08-89df-1caabba077de phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b1af672e-8f9c-4e08-9f69-5e798ce98c76 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:94332d3e-d2ae-4a84-8344-321705888c9b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:ab6e0b1b-81f5-40e3-9e26-af13fc0bf339 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001263 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:263fa10b-e829-48db-b33e-5e18a48fda33 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:8d4f7bf2-f750-4519-b6c9-5f93de767b70 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:622d2aea-e474-45d2-9d56-4b47c82fa62d phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:aa6a1d7d-f419-400e-80ac-0bc68dda60d1 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000718 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True infores:phenopacket-store PMID:30152016 uuid:75548d74-88bd-42e5-ab65-450c06203f7f phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6eac4bd0-181e-4e84-af64-88eaf0caf2ef phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:22736e5b-7847-479e-a6b4-6c5d5f4b3aca phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c3e8491f-79dc-402b-8fe1-b8c89b6e03a8 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9ac90026-b4a2-4372-8210-c67bb6105f02 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:71d31726-3ff4-4f2d-a0a7-15bdb53a0ea8 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4957602f-12e0-45c8-8f52-5b79f1e414cc phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:04159fc4-865a-46cb-b8ed-d525ecade305 phenopacket.store:AHDC1.PMID_34950897_Patient_3 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observation False infores:phenopacket-store PMID:31182893 uuid:9de8f54d-bfbc-42de-a6f4-62334b6f1f9e phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:a010e754-32d6-4b49-ade0-ae6e287143ab phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:c7219770-6738-435b-9308-d493ae95d8e8 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:0c509ea4-5800-4202-a834-67d4d8d13c10 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 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phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:093a3571-9683-44e2-9a5c-39cc2802ff93 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:19d4e11f-488e-4084-b899-4bf4a352cfc7 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:dd3f20a6-a1cc-44e4-9cce-aa358a9254b0 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:bf727170-735c-4c6e-8e58-056db7bca0b7 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:64c37789-b0e4-431c-bc51-c61b95d254c5 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:4aafc411-86ce-4649-91b5-b4c0189fc852 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:cace6562-4de0-4f49-bc8d-f9e31bcae008 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:7e6f9634-e428-48cb-a2b0-1cec8a7358de phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:6def8059-7c0f-49b8-ad6a-740d47f033aa phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:c48f94b4-c2c1-42e7-a5f7-9d60f5e9a80a phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:4fceb504-27f4-4b21-b6b0-27e4cb758446 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:29a789af-6180-49bf-9f35-6bf72a80082c phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:b9fc5bc0-99aa-4219-bc98-48226b1cd7f6 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:a9c67cb5-076a-4abb-a383-a0e4ffd0b16b phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:e8d15e22-3978-41e0-a618-19e0cba879fd phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31182893 uuid:9cf744c9-302f-4df5-b8f5-b25cf20ae810 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31182893 uuid:7132caf5-5ca6-4b72-8faf-5c32379d1edf phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:473edcd5-270e-43c2-a09b-ac40a466c315 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e5382657-468a-4c6f-af3e-782fe355eee9 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:429f5758-34a2-4933-8ef9-7f25a0b9e785 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:872dc08f-9b69-467e-9d2a-18c349d76be5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:06c3f780-ae6c-4812-a348-539bf491244d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ac6e306e-a744-4135-bdcc-bd5218f87b33 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b531f8cc-3160-4999-9a27-1590ea6866e2 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c5bee870-38b0-41bf-a960-76278ab92964 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c65979bc-6ae5-402f-bfd1-d8f76aabe364 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0cd5c1b7-627e-491e-9300-525ec4e11b2d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e4960e33-5023-4261-a01b-e556e95b108d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:dd6794fe-6790-4ce7-a94e-eed9b6385885 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e4c93094-93a6-479d-a321-1d63a5ce7371 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:77075555-351d-477a-abaf-938b85b2b18f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:908fef6c-fa60-41e0-a3dc-8f134f69059d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:f861a000-bc1d-479e-8ce0-f44316e066e5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:68fbcd2a-cf7a-4e87-be43-06c49595ef1e phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0007269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:4fee45f7-ba6f-4b1c-85ff-fc6cc11c2c24 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0003323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:25d3b2aa-92dd-4f28-a06b-b229bebe626d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6f0b9550-edb3-4894-91b6-9ae2f9f829fd phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:2af47978-9ed8-4e1c-9332-4b3e84866e44 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:f3f4cbb4-daa1-4e4d-b014-1562df73a7ca phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0c0f0a6a-0833-4c7f-8f0b-a795a92d0fae phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:21f8f969-d3dc-473f-9cdb-f306461a5ac7 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c20b8c96-403d-4ec5-9b15-696bdd98935d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:af64f1d2-86e1-44e7-983c-6229368d51bd phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7d4f0297-c099-40ae-bd41-0978f83573df phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:d46c3cef-a224-405e-8b1b-1af02ecd2acb phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:64bf6267-0b88-4642-895a-862f5d309cf4 phenopacket.store:AHDC1.PMID_24791903_Patient_1 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:89edd23f-aa3d-4a85-9ea6-466139660963 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0700acab-7d0b-4298-a62d-0420ce7b8f8f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ebe0b071-6bed-4125-91ed-8c025185a1c2 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:80525bc4-8c48-4c3c-9a42-32aeb4d7fb6f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:1e58c6c4-8535-4dbf-b4b0-efe68f0c3b50 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8cbfef3f-cc17-473d-9540-e1bc79be6686 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2b967e56-f1d5-4715-94be-8e1a6832c4c5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c9c0fff5-507d-49eb-b24b-dae580aa7d42 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:54d1f106-08cb-4dc8-a795-d49290007b7c phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:2c0a21b8-18ca-4cca-a406-b35621e9e3b6 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:928fec5d-4212-45cc-a55c-31c96cabbd04 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:976420ef-8096-4af0-9309-d8763ef01459 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3599d1d-28d7-42d8-9871-ed091a9b9478 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:de0b6969-c4c8-4369-aea8-3a98561f84ec phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:887d75d8-c577-4ee4-b047-68dbd7eadd32 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:136d7191-d19c-45d3-a9bc-5b7a74a79631 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:4599b459-6dc3-40d8-b6ce-0a3f9f631001 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:51e5dbc7-40b9-4f4f-9676-4aef1bc8802c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:33a5509e-a4a4-428e-81a2-9d95bf2b6958 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:390250f2-fe91-4d51-bdbc-683d1ddcc781 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:9a2a1840-20f0-4fba-9bba-b2f5241a6c07 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:13255e11-87a4-46a6-bf62-32586c21aee7 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:1e365ae7-4c94-4a81-90cf-71b4ebbff308 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:432bddf0-8555-452f-9f53-75fc68859170 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e534ca9b-4819-4dfa-9491-cfcfebcefd71 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7fc8f93b-c9ce-4011-a8f1-6a41ab53db21 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:fda5b5fa-898f-4662-93e7-f95f1ac7812e phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:d8d98262-eee6-4c70-8a30-65f38f0c8097 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:682894c6-2088-4275-abcc-bfc8148c0b03 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b5836e38-4562-4800-b489-360fdf48aa7c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9bd71118-f5ed-4ff0-b5e3-c1486b96be8d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:7c64abb6-327a-460d-842b-91e778db62a4 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9723ed18-6ead-41d0-b22b-b7ff3bc987d7 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:488452b3-18e6-4a36-a1f1-fc1614300eb3 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8797858b-c530-4a5f-8c69-ca7cb997f054 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:50d83bf4-fb96-405e-9f41-ac4ab54afa0c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:0332afd8-9531-4ea6-94e3-69c2639c9ef6 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8455b502-eef0-4e42-b217-37974f9aeb13 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:94bccf1f-21c4-416b-a007-fff984ed359d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:232246e2-2fc1-4d09-bc5b-8231159ebc58 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ffb9d9bd-3869-4542-a5fd-70960dca0b02 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ced1c5ed-753e-4845-9c62-c878e92c7fee phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:5f8fc161-3f08-433b-acf2-2d2f11b033c3 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:32cc6418-c95c-418c-ae4f-9e350ede9a9b phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:4737f648-dfbb-4184-8a13-8706444009c6 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:54b31f9a-8235-47b4-9c6b-6711f6920919 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b0050413-1fdd-4b4a-b19e-8bf4294586fa phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8f1a45d4-7948-4f4e-b341-4025b203001d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:d4fe2931-5ad6-463a-9a59-3639fc4570a4 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c3520b27-a65b-40d6-8478-6b6a78011652 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:52d12439-98c4-44a7-aae9-c971bd5b914c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3c4253d-bdad-4c22-b27c-d70b9efb5aa2 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:044793a1-eee1-450b-919b-df25e689c32b phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6f0949a3-a40c-4772-9423-d97a0f7623ce phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:486db29e-4844-4a33-aaa5-140de9962746 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3bfe869e-dcdb-41d4-a3eb-dfe8aeb39271 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6909a49c-7bfa-4805-b99f-d7ae4f660d8f phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a436d080-f92e-49a5-80de-e7069e419a60 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a9993742-4f64-40ce-b978-e914ff9bb596 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6d5c31db-7841-420c-ba0e-e7f7e9736f49 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:df341d6b-dfb4-4b4d-b596-077692cf0adf phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:97be6a77-b1dc-4f99-8b93-0dc5c4770ba3 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:074b3df9-b72e-4428-ad65-36114245be07 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:71f41d94-5a25-427b-a5d0-efd3e5307cc9 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f0cac25e-03cf-42a6-abc6-55e04b5889e3 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:9a760766-d74e-4fac-924e-a229de15898e phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c7adda4d-646e-4edc-a01a-ce343dcaa3a8 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e460f96c-65fd-401c-9bd9-3f11e72cb62d phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f1292839-00a1-49d5-a4dc-f50a22d27e0c phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e17fadb1-f209-4e6f-8f15-a8daa2c98a70 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:013f6f61-689b-4ba7-bbcc-e41931d57784 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biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:26257266-0f2a-42e4-b2e0-286f0428ff1a phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d18635e0-688e-4769-baa2-e762ded3b31f phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:cdb0bfdf-66dc-46e3-95a6-2053225a3bb1 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:a5f06ea8-f41b-4adf-950b-8084acf77a44 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0100704 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phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:751ff3df-2ed2-456a-af6b-db54daed5169 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:edff8642-7191-42ef-878a-68c7599745b0 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ed614892-164b-466d-b654-6aa555a8063e phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a651ee08-1764-4f35-9977-481a2a7d2b07 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e9f53017-6c9d-4e9d-95f7-9bc3534e69b6 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:5cf19899-5767-4753-ae26-64cf168cda20 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:28bdfce4-3f70-4c8a-9a29-bcf17a63de62 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:875a6947-8a7c-4cf8-992f-77f44ed06564 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4706f66b-e82d-4409-be05-faa46a4039cc phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:67fb7131-3ffb-414d-9723-fef497fe0336 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bd2f1ffe-e3e2-40ae-8fd2-0274010fdcef phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b21e1794-5823-43c2-a599-ad372bdca68a phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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uuid:c8ec0958-1f5c-4fe4-83f1-693937664423 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:7548ee47-db2e-4e30-8cc0-2bb22bf1396d phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:fe6edd5c-c621-486c-9fd2-7260e4c23395 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:81a43862-f8da-40ae-a89e-113aafa77db7 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f741cd01-21f8-4d8a-a783-1dbd0d410bc8 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c69c22f0-5695-4aff-a277-8271ed55df1c phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a74d0212-6c21-4e61-8231-29faa97d07fc phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e8af7ec8-6beb-4f3c-b88d-f25e607781b2 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd7fea4d-5c17-400e-b8ca-1eae17ea7d7c phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c0d0a66e-f3ab-43d9-b169-8aeefc9a2642 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9244c1f9-a8b6-4d01-be8b-e65c92cb5e4e phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d162da68-9a3e-4a74-884f-1de90b529130 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4532331b-f4a8-4106-9e6b-21ff400ec886 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ce415634-da39-459e-8e32-b18fbfb50916 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b4a5aec4-de37-4bb4-81df-d507edc9143a phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cc380c1b-81ed-41ce-9341-aceb463d9807 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:777dceb9-f1b6-48c8-98c7-1a2e9eef62c7 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6f96d9bb-b5c7-4987-b268-ae42e839aab4 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:27fc5284-ae7b-4e2f-b0c8-99af4baf486d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30152016 uuid:ea13986f-9c1f-451a-9a60-8624d0fa5d09 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d37fcbbf-2c4d-40b2-bbfb-d36061cbb383 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:09d84aee-ed4f-42b7-b7c7-3b843dd3f89a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ed877dc0-8f52-47b5-b866-bae8235a35f7 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:f74bf2dd-4bc1-4ea5-8f64-17fb86541c13 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ef028769-9ef2-487f-8d77-a3c3d7282d87 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:11d95b09-3453-44ce-848b-950f68d3a013 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:23bf6fc9-d9c5-42c2-b49b-b6385886944b phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a2ce9de9-3f0c-4aa9-a8c9-f836c4983aaf phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc8ba827-fb96-4270-90dc-af06d56b9d38 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:448e3550-6a11-42e5-8e49-d040a3604951 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1e6023af-39cf-4a1a-b373-b28bc112ef58 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ca4e1764-d777-49ad-a863-eb96d589338d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7282548d-5469-496f-8ca4-a60cda81b3c6 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cad44dae-fa7b-48d5-88fb-82ef0f91ab46 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:418a0751-0ed0-4e32-8939-8d2c927e3fd3 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3eee77ef-987f-4b24-9350-f73fc2a09228 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f3b29754-8b7d-41ed-83da-5902661f2fac phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1f108c19-c44b-47f8-ae1f-278a537b046a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c4400c0a-7915-4463-b59e-91d7fe8d81c7 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:01b48763-87a7-4ae8-a2ca-c737e74f444d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ee9845f9-9f44-48d4-8156-fddfac32463a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:05eacd22-e668-4811-b8a9-41b5ac5dafd4 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:ba85fe8d-57d3-48c6-881d-601d239e4e48 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fad83099-f900-4b54-8cf5-b59e2aa1a8b3 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:164cab42-3625-41fd-863e-1f2811efb498 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:07a30e3c-55bb-4236-b0a2-1e77ed11fc2e phenopacket.store:AHDC1.PMID_34950897_Patient_7 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biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:46bce8a4-f418-41e2-853e-9b7ea5d8bb92 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:a31d4a23-77be-4d06-ba23-d0c1e88fc50d phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:bca96f20-61e3-4a79-b4f3-aa68f778a613 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29696776 uuid:6bcc7d50-9a39-48f3-ace8-ab2f2a4a1c25 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d76c233f-6bcf-423d-a9d4-6ad62aa4d36f phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f051bbfe-bbf2-4794-9030-ef300cca3a64 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d53ca120-6103-48be-84fd-dfc995048a06 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d97e533f-0dec-4982-85b1-3bef29bc0dc6 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8be3e854-7532-4896-a8ac-42ecf432a662 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4a8fb0ed-deab-44fe-abc6-ca56799f09ff phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:faa97eb5-59ef-4a9c-a33a-ea61a9a4f238 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:13a82526-e0e9-4a2f-89bd-77ad34ca73b7 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3b27c3c3-2bcd-4751-9c95-31e1173d8f0c phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d365176d-bb08-4429-aa8b-caaebe8f14ba phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7bb09dcf-fa33-4a42-a59b-788c7662ee30 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9810a1df-c0a9-4c17-aadf-ca8c8b2b28aa phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cf85f184-3469-461a-8602-dda148e22753 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:922df154-bab5-4b1b-b03e-141de0ad0c52 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:b6eca97c-0c7e-493f-ac67-1a0e0b4aa1d8 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d2729d00-9d50-467d-8410-6df426a8ed29 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29696776 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phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:40614532-26ae-439d-ae71-f1b5f2bcafa7 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:db4f0eaa-f83e-4748-851b-64d08506d268 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d7aaed2e-dff3-4842-bd67-036623942604 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b4c6eb36-82cc-4177-91b8-ffdd63030af6 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3ed34427-0348-464c-b16b-1d4440397cab phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d47fc4e7-ddb5-491f-b865-a1231a3d5522 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4326d4f6-39c6-440d-829a-deff28c88a89 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:443f72d5-bd10-47e1-bf85-0333dbe57e62 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000494 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infores:phenopacket-store PMID:29696776 uuid:04aab42f-2023-492c-bc35-16a1fa6b78ae phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0beb787b-9483-403c-805f-0d5aac83b103 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2656eb51-d5ce-45d1-879a-90d6fd6eedc5 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b3609056-ee01-4d31-ab97-51cb9bf36217 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3f2afb5a-b055-49cb-984b-18943646515e phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8a991472-b5e4-4d03-8bd0-5afc1d21aee3 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9b6a819b-ad58-48ec-8b3f-9ad6ac38e9cf phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0482dc54-850e-426c-ab91-3aa5ed314d30 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:f2bb9a4d-ff06-43c9-9f0e-113ff1ac602f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:fba33c6f-b2ae-4d2a-81a4-2ca96d1bd23f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:6bebf705-aefc-4fa2-ba8e-138c1754d415 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:c95d6bb1-e85a-4e3e-a407-b21e3f1574e8 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:adefa23c-62d8-4880-8249-42bba4584792 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0011448 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observation True infores:phenopacket-store PMID:36157999 uuid:116258e7-8006-4f5a-8f14-bbdd92846250 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:031a3caa-542e-4819-9ff9-c9bf560d6445 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:ccab354a-bbc7-4793-a934-e1b5b401e781 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:54053c99-c91e-4fb0-99f0-75ddf8d5ed53 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:8a55db01-a671-45f6-8120-5edb526e806b phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:4963d23b-8fcf-444b-ae91-aa102163d008 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:534d882b-ca47-45c0-a723-508fbdeef18f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:16dff6b9-4965-48ca-954b-2a730359a1aa phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:ccc77438-19ba-47f2-8c4e-b6a238741f58 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:4de520b0-8cf6-416a-96bf-dcb82e65c092 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:3af85310-bc05-4fa1-aa8c-d98a227a600b phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:a518e996-c06e-474f-a0b2-913deadaf438 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:d71f3d57-78cb-4743-9dc2-c17b4deef79e phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:0fa17db3-6555-465f-a6ba-651ca6047329 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36157999 uuid:bdc5ce92-0fd2-41d2-b9cb-c04e05a75268 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36157999 uuid:9a7f93d5-ea5d-4472-83e7-93a9a74c19c0 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:34073322 uuid:33a2935c-d198-4889-9562-5cf56e0a4880 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:34073322 uuid:0ad320f5-cf66-42cb-b47b-e09577b5531d phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:1ef17efb-174e-4193-ba76-0d32b09be089 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:90e7030f-3e23-4fee-b879-0753d268adf0 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:82291956-5bfa-4018-a74e-8982f6f41f23 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:59332ac9-8959-4083-a476-5c749fc8f466 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:885ebb09-f9f3-432e-8f7f-ca686cd4c964 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:773e2b43-9333-41f7-9515-a89b5d4c0605 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:bda358dd-dd80-4e86-aa11-ac8eafcfed6f phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:2ccaa0f3-64be-4aca-a651-dc83bf507a52 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:b7d0424a-8e68-4dbd-b64b-8ed294dd4e46 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:560ebdc5-9e8c-4f49-b9ce-d388259b9218 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:dfbbb9e8-54b1-4728-b117-34472c705cab phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:86ceb753-4e52-4da9-a46e-b8ca2d1c420c phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:d630b051-9b26-4c1b-bfb9-5b1d2bdb022f phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:1ae8c407-62aa-4ef1-a68c-60e5b0d76f27 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:d8de16dd-98aa-4448-8ab4-8e062ec98fb9 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:11dba75d-9f8f-4afa-aad5-e95c82d2d4dd phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:73a7eabf-f09c-4e4c-8592-3c13f8431e23 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:551e0701-6090-4875-9ce2-89490d54ed09 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:197a9986-1e2e-432e-a177-9ce6fe3bd312 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:21250869-ce6c-4852-8b66-5ca22b81d982 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:58da6cfd-643b-4158-9b02-3ad1767e6aad phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34073322 uuid:0214c27b-c47c-4d49-b21d-95b8373ebc2b phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34073322 uuid:cc415b20-e80a-48ed-9c0a-e6697bf4e9d6 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:1d1c22c8-1c97-4f32-8623-99b365841b9d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:feae1fe8-959e-4d7e-8c85-146c9af558e9 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f40bdf72-66f8-4538-9ffb-0ca9456d780d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:89202f3f-b6e1-4afd-9aec-4062380d4166 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:0ab42cd5-560a-4f06-b53a-705a98ee9e03 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:c26098fa-cd32-4ab2-8932-bd4a7d90f4b6 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:312cb8a3-c6d7-41d7-a860-01261bbd160a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:22323277-4c8b-4608-8048-5ab7dcc0f88a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:43225e44-54a4-42b8-98ac-5aa97845ae8e phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:4a33fc93-d9e1-4e96-aba6-99b0f8d256fe phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:b8685eea-c3eb-4321-8232-db31b2df6755 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:099daacf-9998-4329-a1c9-550c3829cc6f phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2bc1ee1d-3c67-4721-ba7f-52b46c9c9eb9 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bbf8c051-b31e-46a1-98b9-97e1a321e534 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:74bdbf6d-d725-4167-ab40-dbe2863259e4 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f410a2e7-8603-4205-b4a5-6201437c0679 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:ca01670a-3fb8-4994-9825-606eaf20a862 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d0037649-f49e-4f2e-9ff5-f3433320f27d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:a17086a1-717f-4fa5-8516-3f7b3630324a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b9ebd27c-f8b0-47d1-8acb-b2a2e8f340f1 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:33270cf3-bd61-4e2b-9713-ee524f41ff24 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:99a86a3f-f074-4858-9373-7bfd3dbf4bc0 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:297e62f1-2fbb-4c9a-bb32-14130b1ad248 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:bedfe89a-216b-4c7f-819c-4ccf05f91261 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2e47ff29-5ca1-4755-8f23-fe33ada44aa3 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d61a1e48-4396-4a80-9996-d12709c133bc phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:3f4f94d2-2f48-4936-9918-d9e3a3409d09 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:77702b11-47ab-4691-b7fc-ff8f604e6aef phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c2100ffe-810b-4d4c-b921-e8b2f2e069e7 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:3462716f-c23e-4767-8c8a-830c76410547 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c59769ea-c8b5-4018-863f-84b9b92469b4 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:429b8c38-0086-4900-8c33-ad01384dc345 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:af372ef4-ca64-4699-8ace-4330c252f452 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:9ca99322-dca2-4f46-8ae1-d9fefe0b7951 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:e57228c7-0f98-469c-9130-a8b3c8dc0de5 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:34950897 uuid:e3998ce5-4255-43eb-bdfa-66e2b57ff5b4 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:7258b0fb-372d-4baf-b08f-a1a1d69e98d3 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:23cbce8d-f343-4677-9a31-6414a0b0a144 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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uuid:02177a9d-1481-4ca5-8b8c-0191a007eee6 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3bcb6226-015b-47ea-aa2a-3714000a83d0 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:eb276e21-27db-4b61-ab68-e1b00d16c9a2 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e60b7905-d944-4f2b-9c52-e20c120b3314 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:bd4de35a-1add-4746-8d3e-5b7df372d510 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e26211c1-c507-4586-969f-bf4adc005fd4 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f5f84626-f7e5-4c35-9424-aab2bfdfffe5 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:229c85b2-1f2a-460f-9ec8-b19bee9e1d7a phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a1a44651-c72d-4b73-873d-e51d7496f76b phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1504d44c-1f99-4be6-b468-1879a1867a78 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ca433958-1700-460b-b55a-97d13581697e phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:806147f3-2544-453f-99e9-ca1596205a1a phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8a0f99e9-a269-483f-89a9-fe4329b80057 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:142b8a99-3f47-41c3-9247-e7b37c1f4ccc phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:92d774c0-4cad-4cf9-8285-22502ab5af85 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2feb5684-08a7-4b1e-88ab-46a0ee001a6d phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3d874022-f426-4606-941a-52b5535c59fc phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9fc988b3-4523-4d14-bfb9-6c24cb11c60b phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:845551dd-9a3f-4fe2-944c-f6111ae82304 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:de3d0ceb-3e90-4100-a838-7c83b254e4f3 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8f382e88-1f7b-4d29-8972-801b84d6cf13 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:a681033e-a971-4368-90c5-38ece1be252e phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:446e819d-4dd5-49c5-9f2a-9bcf8737e323 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ac37c66c-e300-457d-a825-cc9217d2b4d9 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:3c908842-e8b6-4e18-be4d-9512593c45d5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:8774231d-fdc3-4e18-a9b7-149ccc60b63b phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:0b03654b-d3f1-4a84-9d0e-09d2585dc0db phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:8c2fe975-5bd3-448c-886e-c7aed8b44ab0 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:753fa88a-7aa1-4246-bb3b-4b28ad1e0f64 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:efd8b61d-a068-45d6-88bc-853aad641a96 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0011396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:854cd22a-5a71-4b8b-bf6a-05b48d0e0048 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:0c38d3a1-3955-43f0-be59-fb338bd97f34 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7d9d49c8-6346-4e17-b0f6-94810e41c3e4 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:15c3ab6e-b2e2-48db-bee9-ebaea35f9e98 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c2bc6193-f99b-457c-8332-f38ddb8c2c75 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:b2ae9bb5-7fa8-412b-a44d-a44e147929e5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d2a03840-67ba-42bc-92a0-03ec5bfeb011 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5b1c6251-4351-4c1a-90b0-727048dd2712 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9fe3a9fc-e71b-4895-91f7-8d411ace8c03 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:07c135e4-df1a-4d05-b49f-2fa07e62de48 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c88db51c-b4ce-4d86-8072-ca3cde986bb5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:157fd616-75b1-4b1e-b692-89c03b650d59 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:585017f9-a9be-453f-ae0d-49ece0eb3df4 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1e4cffc4-f0c1-4ef2-b65a-0d32f0f2cd37 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f8725df8-8761-43a0-bc43-8e75698e7584 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ab1e4aff-d7e4-4e79-8db7-b0f16f0c8084 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:bc6b28b5-9913-48b6-b4d9-8a835c67eee1 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:733cd559-cabd-4d05-bfc9-f4fe0e89f2e8 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0450e3ad-2795-40f4-a408-d9bd7862a53d phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6d86a169-fc2a-4210-bb35-d33802fe7b5e phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:56b4e4ed-1dd7-43ef-ad48-3bb43958b798 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:fa6f830e-f8d1-4794-9f7c-d4d2d3a7b1df phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9e900979-ec03-47f2-9f7f-c9e9be54d30a phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:93baf08d-fff6-40f1-a82a-6e6602dd2fbf phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:509cbcda-15ab-4091-b34f-f0b0350ed371 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0e95999c-1137-405a-8211-e844db6cd57d phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:4cbb9f2d-8490-442b-9443-5652072f7e58 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:07c65e0a-ec72-4230-8107-421d301d73d7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17D infores:phenopacket-store PMID:30152016 uuid:3b2a7b0c-91e8-4b23-a933-16fd166dc086 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b6ae0bb3-b660-4f5f-90a8-fd4e015b6d68 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:24b03fe7-d1d5-40df-879c-8157d349c5a7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc6da7b5-dad5-4ee0-9250-9d4dfb6e6820 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:624e41db-c9ad-40a3-bd42-b8623c31112e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b258955c-6e68-4810-b3cc-38710d69fdc0 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e53655bd-903b-4466-b16a-17f563c0257e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fe6df62b-1c0c-4a19-a1d3-e6981deb2d21 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:4ec31a86-bb35-45c1-bdfe-3814dd3bb1e7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cb55f1e0-9440-4cce-86ac-9615b96d1780 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:74be77b7-a692-4388-b935-cc2dc238eb5c phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cfa363aa-c756-41a0-8fd0-9ab42214c347 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:f62347e8-435e-4ba2-8fea-1f548f27edbb phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d8e25ccb-ec62-4c3d-8df3-c78b103ebee5 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2efa189a-d8fc-4d69-b76d-1a2eb95ec8db phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ff4f1647-5a78-4f5a-aca1-99c0fa8194c7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2703c1ac-a07a-4a7c-a749-3b8bfd95b4a1 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e9dc7d71-5c34-4868-8053-d2ff6d9c0c7e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:37a444d6-57fb-4f94-bae7-d0c3d04dda0f phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:172bc6f9-ba48-4098-a064-57c2036a00b7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f3cf3ba9-b1e1-442d-a9de-432565181d62 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6d02ceaa-6fef-4d7e-91be-3ce7fd968bc8 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2c37426b-0359-4af6-b12b-e1ed38fb836f phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6f31509e-1088-4045-8711-95f2f33ae6c5 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30152016 uuid:ec604cc1-79f7-4e4f-9c7b-0773f6aeb973 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:ee836287-b1bd-4e4c-b1aa-5515bb667adc phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:bbc87560-7ba2-475f-a87c-3ffcdb6da2af phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:6d40128c-d0aa-48b5-9c32-5c288cc6d04a phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:76956052-d1f4-414e-9a56-8e28d610da92 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:521b3342-5b26-4b63-a442-e7effb80c7f8 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:04af106a-3e10-48ea-a595-e924d8f9e43f phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:5ede35f9-63ac-4aa8-b853-822c81213dc7 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:fbca1f39-ec0a-46e1-a83d-cbf655285d91 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:bdd15549-7d57-42ae-b264-bff4d15038a4 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:4edeba53-39cc-495d-a3b2-1123043b1de8 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:c735e445-0d08-43fc-ab5a-0cfa4996f9ed phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f89ed64d-602e-4587-84ba-cc89dc120b57 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:d724f4a8-6ccc-49e0-825d-ba999d5dc4a0 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f31a3f1b-8031-49ee-87a2-e1350c9fee90 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:ca81aff3-12a3-440e-a998-b0dedbf1eac9 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:dc748686-00db-4e31-a697-3c276571a531 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f08ac12e-10ed-4752-8cd0-bf935192f9ad phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:77518b06-69db-436a-9372-9827cba79913 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:e6861d12-86e6-4417-848b-bcb0ad19ff39 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:f5545c33-d7aa-4b1c-ac84-e252673d08ad phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:1d842949-7a6f-4759-9085-cf862246eed4 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:e61e7427-142f-4fea-bae2-438a49980094 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:285553b7-069f-43f1-8117-b49e9bf7d3bd phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:988ecd96-9174-42df-9c24-a2ab7cf03616 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:61932bef-bd92-4e79-9268-f49877acd747 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:a3b69b85-c3c7-49e7-a11f-00e60c22e3bf phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:09efbbfb-9c28-40c6-8f2f-575cdad50133 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c4c54a18-26ef-48d0-bb31-f9c61d6134bd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7f8eee13-0fb6-4e8f-a5c4-ae9b11f18328 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:5cb4c150-ca20-4041-b13c-05a1bd270922 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:714c6117-7c9b-4585-b1ff-f3889b21d6fe phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:95b813e0-3d12-40f1-ae06-e4dbf2c11564 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3da86e6-0966-48ac-b31d-9475f293079b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:cf589ec5-65b8-435d-8a57-b4b091f0ac61 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:8502ddc9-3761-4057-85e2-8948296945be phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:92fe24f4-b5c7-4e91-8831-4656b7f42055 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:960e8097-5b68-40bb-8daf-18a7a9e9e8ff phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3d8b8f39-2694-4bb3-b72e-dc220f2682aa phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:24fce62d-aeac-4e62-9d2e-7561995215d8 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3b0e9c31-8766-4099-b34a-897036cbc2dd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000211 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:90abbfd0-49db-406f-a606-27e3bd2068ca phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:11031819-7209-4e03-9a48-8e72c8d83458 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c89a5fb0-2ebc-4825-9c90-1158b702f53c phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0005216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:8ac0b25f-6945-4e18-b30a-bbfa6871131b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c5000519-1318-4813-938e-24bf24736191 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:78060a90-5de1-4594-ae44-77e93c262774 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c0d79006-19ce-484e-8162-9721ff464b6d phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b4aa0a11-7f02-4543-915d-c60773b240a4 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6095508b-de4c-4a0e-9dbe-14ef975b70d3 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:45e03c8d-fcdc-40a9-9f0d-232192fe5430 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:5ccef5e2-be0a-4660-a78a-280d44fd3f52 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:773a6e8e-7c80-44c3-9aed-89877076de7b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:08f587d3-56be-49ad-b4bd-c03f9352a70e phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3fe864b-e49c-442b-8dce-73eb97b96b9c phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:02ce8616-1778-4dec-a670-d4edb4d27c31 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 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observation True infores:phenopacket-store PMID:24791903 uuid:82a290bf-b853-46b1-816f-56e3192a9324 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2afb6868-a318-4c86-8e75-b5bd4600fccd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a6f756e1-c117-4cda-ba83-9a9c824a4b01 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b1ad54fe-6125-4e5d-a527-735c90da4bcf phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 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phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:88c3b0f2-222f-4e55-9810-5f25baf15095 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:610c7988-5efe-455f-a002-d04056c45ee9 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:29696776 uuid:060fade2-6089-444f-9023-128c59d6a47b phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4d284a1f-62b9-4579-860e-c87b43725ffe phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:330d7793-b219-4947-a7f9-febc50deb2ae phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0556a16e-af25-4fda-9828-b81fb8d4ed58 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9d1b6890-dbdd-44c6-9556-002f18914819 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4182601a-bba2-46ac-af65-8038e00f3083 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4ebf378f-1f4a-4361-919b-ebfc4fc503f2 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:7fae5dd8-bbe2-49e0-937d-37d729851652 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c7217df3-9c50-4559-ab81-8f8b796e8e28 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:545a4d42-e33c-4bb2-b978-294f12ffd4e3 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cf59fc54-2ac4-4520-9ebe-01081a363716 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9e6c2a7b-e4d6-4e18-93d5-d4bdab8e68c0 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:eb8bc0ad-eb3a-4fb1-972d-330611ccccc8 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:37e4885c-a392-4148-9720-7b507ec9afaa phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:61bd9bb4-a941-4066-8422-f86b50feb407 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7c17fdf-915b-4e33-a771-34eaed16f8b5 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e9cc2e25-59fe-4bd9-a2dc-f09631734a44 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:25025903-20ea-4f08-9a72-8bfaf668d782 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ee29b5d3-7d7a-44fb-b659-4c5b3a96f872 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a208f3f2-02ef-4c4c-a056-e3d7419da8e5 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:1d3fd441-ef88-4012-9b10-a4c499faaef2 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a5cae1dd-c695-4a4e-b34c-3a3f407ba276 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:32edd4f6-1b3e-49cc-8061-5ba37e605341 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5d8a9888-47bb-4b31-8a70-78c6edb0f874 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d65cdf95-063b-4538-b7f7-7e34ff9d5970 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:847114b5-f6ab-432b-a0c9-a0a5b9f41f18 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:31a137c2-1eb2-46de-a8de-2610bc3267a6 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:58064c7a-941b-49f4-b568-a6d9b95626b6 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:95d81029-2ffe-4d28-9f01-f087ca4231ba phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d331113f-65a3-4d98-8e6b-57c146eae132 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0393ec0d-a248-4771-8ebf-fb6267460576 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d51946ee-f876-43ed-8a25-859eeec009ee phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:3d6f3037-73d9-4619-a5e5-a21e3ccbb68b phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cc00d8f0-1a64-49a2-b2e6-6199c0990128 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ba066dc3-4ec9-4ca4-bde1-8d76014beb40 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:6aa6c51c-aa60-42bc-8d9e-71d1693b6f65 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f748ac35-82ff-4670-be90-59953f4c450a phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:efc0dce9-9591-4c68-a17d-f30415ab0f89 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4296af64-92e5-43a0-9d62-c2dabd3e92f3 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ec4eac61-c0e1-4f0b-b226-ab1112c0b76d phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cdefa3e0-2dbe-4cf6-9f2e-248b198b4259 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:934a3cad-7120-4edc-934e-b6aec7923fb8 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd8eab4c-4591-499c-809b-29a640f755e6 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4952659e-b6fa-4c22-8ffd-cc54cb436251 phenopacket.store:AHDC1.PMID_29696776_Patient_12 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observation False infores:phenopacket-store PMID:29696776 uuid:0ac8f552-9306-47cc-9f69-86694308e676 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:87f1b61f-e374-4775-9577-9bb25f50d949 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1390e739-ad90-4610-b285-febe3736bbde phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1d2a9ab5-76c5-4e87-ac5b-e408e53f1507 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:54b29921-dd6d-4326-b416-64c4a43335a4 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f4f07668-524d-4f7f-8fc5-8dda17deec26 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4e49f192-8e5e-4fad-b14f-782d19bd8a68 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:829be5e9-f9a8-4b74-a703-7ec553fc2b9d phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0002650 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observation True infores:phenopacket-store PMID:29696776 uuid:5c73f14f-7269-4718-87d0-0368d85df0f9 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:ca8f1dd7-07ac-4090-b5b5-fe4b30ff426b phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:a58ed7fc-9dd1-405a-aff1-4c1580eee627 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:952eb93b-f69e-47a1-9719-b7f3dc930b85 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 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biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f670e7f6-019a-444c-9de3-cc1eccf5d358 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2a691d11-dcd4-4ed7-bd86-73eb2e3ef6ae phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:76db0671-4d70-438f-9001-02756d4249f4 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2de33ebe-fff3-46f1-93a2-e6f4bb86b403 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f86228d8-ab43-4b93-9d3b-2e8c378793a4 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a8e738b2-b94d-424b-8810-1600aa718efb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3fa0f71f-e8d0-47ab-89e4-b379223bf256 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:accf2ac4-ece6-43f9-9140-fc60333628f6 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d5d92b1c-ed72-47ad-8638-1e83a28af218 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8bab4c2a-9459-431a-b107-1f241532f650 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8377f94c-9ace-4548-b18d-e8baedaa24ac phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9de4f2a8-4393-4af3-ac1a-e1fc9cfd87b5 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:af996330-9dea-4fb1-b40f-a25113428d1e phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ae2e219e-d3ba-4af3-9360-612d49cf805b phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6b6802c3-5fb5-486f-9fad-a44e7b64e8fb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c9070e7d-0c00-44ae-887c-f61ba3803710 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cb31c749-b7da-4af6-bbe4-9fd5f41f13b2 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a527e736-804d-4344-83bc-15ffb955d5bb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:649e8b39-c94e-4fe8-87c3-709cae87d73a phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:61dd94e5-dc20-4e94-b1fa-5c7ea4b0a56f phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:8f635739-c996-4ec1-a838-d709b964ba85 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34950897 uuid:93b8c667-d189-464f-a109-0c99827d88b7 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:64c1b63b-d530-4896-8420-1b2a421c73b5 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:534864f5-6bfb-41b2-b2bf-4f938c2c0aa7 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:bf2b59c8-5726-4912-be73-5e3151de6afa phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b7bc570b-18c1-4eb8-beb5-7f9834555545 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:e5c7f600-b6fd-4734-8e1e-f28ef6532f45 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fa700702-d146-46d5-a929-aaa6f5705eed phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c7ce4747-7fec-4a4e-a0a2-85e013244093 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a255a836-c19b-4155-be54-33c48d0d42ee phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e2b1fc63-4d6f-4795-b395-73bee5a56ade phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8f700b2d-499a-4040-9a7d-1c9485d6922b phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:81eb78aa-1aa4-4d05-b227-a8a4cc57689b phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0270c5d9-72e9-4f60-923a-7673894a5bc3 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7394955f-6eb8-4930-ab4e-6683e62638c5 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ffbbcac9-a7a9-42c3-b480-918becf653a1 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:50416da3-bc14-4f99-9222-3a8826e1b309 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:af42d285-1c7e-4a82-9ed4-8556869336ea phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9efe83b8-39b3-43e8-a29a-4482d8df81fc phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2d7034b9-7d7a-4055-aae2-dfc5d1553a16 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3691b291-fcdf-4faf-93c3-a2dc8aa87336 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:ce3f61c0-2b0e-463e-901b-f5030f84b2f0 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:83095782-102f-4819-9459-2beb9e458bb2 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4d43c521-dbac-4f5b-8ca8-dcdde3462370 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:614b0b90-2429-483d-bd73-eec1a58473e3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:05f377a5-be79-4147-932a-4553db204be7 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:ec04facc-9ecf-48fc-bc5a-bc26407a808f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:159b1afd-49e4-4be1-8214-950c940207c3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:daa48514-bf5d-46ac-ab62-507ea24784b8 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4db8045f-c098-4698-addb-2924d9530978 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3e113499-d9d7-42b2-8c56-6d093df70928 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3bd6b537-1a8f-4447-aacc-6f8aa9093657 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:e05b8ec1-b9e3-4849-93c4-3b7a7c61cacd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:39d2e70a-be8a-48eb-9b60-4459ebeff4c3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d78b5114-d57e-477c-9436-c5856f32499d phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:90f83064-e928-4373-8fe0-3167d6904c2d phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:dead029e-192e-4d39-a0e6-2752478c0d6a phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:97bd944f-165b-47d5-a813-16bd167941f4 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:6ae0b05f-7db4-4687-b251-b5b2a5bcd8cd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:8beea50f-0b09-479e-bca2-e5e84cee3597 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:1703d433-1f56-4452-b041-343ceffe83fe phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fd3cea18-359c-46c1-b96c-e7a8a0aadd87 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d63410b2-cfc7-4349-b7eb-0747afe4ade9 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f071b852-222f-43fa-908a-3bc952ae9038 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d8f8fc62-26ed-4fe3-9ccc-ebfbc0f49ae9 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:96e4041f-04cb-46c0-8626-969e2bff3f86 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:cb0cfa8a-a4d4-4a0d-a534-8576b744c8ca phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6ed05aa5-1436-48b8-a4eb-16525c4e3293 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9d479be8-b144-49fc-918f-ae447dfc853f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:44eba163-b421-4b66-a779-4b03c119b651 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2f8e5829-cf0d-4928-8dd8-74c571965513 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8f57f925-2dd6-4de1-ad72-2dfc53b787d1 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:09501657-c46f-4104-a615-c5f647064d82 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:35c22774-a01e-4a55-b2ec-85fb6974d4d8 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5d4e867b-afc2-4458-b1ef-19972255b249 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:32eabbb7-0bb8-47c1-8518-6aaec8830e31 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f1c4c49f-d6bd-4e2b-b44c-ea99371e55d0 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:cfb71cd6-bbf3-4684-88de-c0b2d20181dd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8953c698-732d-4024-a0b3-709000783970 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:214bcf80-1e43-4122-b5ed-301ba2758f41 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d30cf55a-7002-4565-bbc7-a569d518a58f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2befcd7e-a9ad-48e8-8e7b-845cff4e709f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:633dca24-ccdd-482f-a293-305ef331a2fe phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2e96b45f-e0a7-4aae-9f1e-6c998af61d66 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b04589d4-aa0f-4f1e-bcf4-710fa8c15f10 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:06e7e360-e11c-4f22-91f2-5dbf01fb6da7 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P6D infores:phenopacket-store PMID:34229113 uuid:e151fb6b-4d5e-4374-ad53-4bbab6574df0 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:2b63e5b7-b6b9-4faf-a8bc-bb832ce96eba phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:1116d157-271c-4fc9-8d2f-3532e1f8248a phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:3f55237d-2ef8-4339-ad95-68d8e6060e0b phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ead7bf29-86fc-49ef-b5a6-d73fe6d535af phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:5ac21854-e0bb-4e0a-b97a-8df54ca811db phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:601dd181-ff34-4018-a185-31816fbffe82 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ab98b0c3-e538-4a2f-a326-2dc292de5faa phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:c35b3260-a0f1-4b41-8a69-902d29b63210 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:40bd59a2-2908-41b4-bb78-5f08ffe98e4d phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:323e7ffa-979b-40c4-91c7-0eafd6d96843 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:20527e5d-841b-4818-9239-74e32e14758f phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ae02df64-092c-46a6-bdb8-a87b974c9100 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:38dc541b-2fbf-4e6b-b511-68196115d2ef phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0012418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:61ac113e-7a0a-402f-9306-5ce172bf4d47 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:04ae0d6b-c416-4ded-b5b7-23b502f69bca phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:52778d77-2fdd-4d05-845a-09ed0538cde3 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:05a88c0d-a460-4b83-880a-2606d1749670 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:2aa64f69-3e79-4393-a665-e9866813571e phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:e33b7e0b-c0a2-459d-b2b8-00beba56ce12 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0007112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:c6bbcc2a-90c3-4fb3-9842-98444aa39c62 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:40723ecb-f09b-4bb2-bcc2-294d0902439c 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phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:d7bb9c61-c046-4059-91d7-d26c249584a0 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:06cdd294-93e7-4d63-a87f-80b616d3c98e phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:89e6e4ca-aa59-4f4d-a034-19693bc7e5a1 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:22041034-f5a7-4796-931f-b3f8bb758fea 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phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0973d99b-fe49-4e23-806a-f465cec69780 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:cac384d7-ccc7-4754-910a-4ce8996a0c3a phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:fb5e782b-d38e-490e-ac2e-5dcce086454d phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:67ba4a79-a059-45db-bdc2-09a7d4bdd6e3 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:67a46b5b-6568-4b39-963e-acac35a97889 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4fc3e181-c7ae-4475-a2af-7516dce2dd87 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9b9dce9c-b33c-49fd-b143-47835fcb8877 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:33958f67-ca5c-4161-b597-57c619e45def phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:ee9d9100-afb9-4992-8bbe-8397b9c338e1 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:b8cee5f5-05c7-46db-83d2-0c8435a242ad phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:80c293f1-35bf-40b2-a355-5aa02332d0fe phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:b7aa85cb-d65c-44f8-8ebe-e9f843b1366c phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e7ac235d-5b3b-467f-a1e0-a2178794ed79 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d5e28a31-8f4e-4826-91bd-bfb9dcd3448e phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5bc05719-0f4e-4197-8ef3-e93352144a62 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c395f03e-729b-4c64-a7ff-6597087291a5 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 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phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3d29af19-89bd-448a-927a-b4689bf5b8f6 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1021e30f-a4f9-4493-bee0-e73e8cbec900 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5ee8a19c-e028-4a62-b7a5-3b2090f08fbf phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0fa7747b-530f-43e3-97d2-110afd47db0d phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8d92df67-9845-4dd7-9f64-fffb73f9a9f5 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9d758d12-12cc-4d4c-9edb-f914b2a3ee91 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f97a6e29-396b-4a8e-9703-e645e39b62ce phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:61e8abee-7d9d-47f1-bdd5-d6ea6531b247 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:522c663b-ba2a-4695-9a37-05a581b0db68 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ff750458-cb07-4b1c-afac-ffe4d84993db phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:061465e8-ecaf-4c29-8a3f-780507a1b435 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ba054f50-7c27-409d-a4ca-091664489ba0 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:770000de-0921-4316-beb7-37e570c51c8a phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3e47e816-d27c-493a-b409-240f6faed84a phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5090bd44-b4de-41d9-a82d-1154ef512b5c phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e2c26683-0b37-4d3c-a988-6763f58edafe phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 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phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:35705bfe-9499-49a8-8aec-442f8852b6d6 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b3834ebd-d3a5-4c07-844c-37aa8a9bb798 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:e29df9cc-d48a-411f-b7ec-e13520773ccd phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:3c511ecf-54e8-4b9e-bb98-920e2c089015 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000219 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manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4916f68a-0283-4cff-a12c-d4140f3c839a phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:31120fcc-0b65-442e-959a-ab2b0e3883e8 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:5f6a2eb7-aa96-443c-822a-c6af599298b4 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:217798d8-074a-4be6-a931-13518c282117 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:19cafd65-fd4a-4deb-b1f5-8db3b3bfcfde phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0646b573-2cce-4e14-bfa1-12606fc213a1 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:75fd2206-666f-4e5e-9015-597aed446a75 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a8949959-feff-4661-868e-b7c9e3e788c7 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e6b06372-d1e4-44b7-8760-b18411710d99 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:96f5b3bd-0ff7-4cb2-aa31-e4f2a4f7f4d9 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f91bdc8a-8cdb-48f6-902b-e563c473039d phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:07313ad2-0bfa-4746-b65b-e5ef2ec3a5d9 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0198b980-5c2e-4770-bd4a-e556d0bbb8cf phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4d7ffc19-7909-4c54-9b11-17727f8263bc phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:843efdc7-2834-4af3-8559-068625229780 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ed998275-8840-43b7-9841-a5339fc155b3 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d72773b6-d1c5-44ed-ac09-1273a6466b7f phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a2f63427-ab65-4c3f-8a84-b581d9e77cc5 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:b4ba5acb-7c14-4608-8293-632c363c3d97 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:70e17f24-0bad-4a24-abe7-90640b1c505c phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 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phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:04fedf7d-4711-4faa-9289-1ec41aef6927 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c060eddb-930d-48cc-b68b-c3a5fcc27a27 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:194625e6-0c47-4d41-9854-4f7cb9fb4a36 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7aab237f-50b6-40ad-be56-c8880d4c4a58 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5af4ac52-2fcf-4ee1-a529-f5b46a1fcbe8 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:32bea1f6-47f0-45e3-a3fb-b6ba9553e125 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd6e3471-35d9-4c79-a6e2-a4af446cccf9 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7d20bba0-95a2-402b-a5c7-3b4bea903b76 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:58e844db-5367-472f-8f67-7243c89e4f35 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:b1121caa-c869-401e-8510-cc0b3d49c933 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:52ff0d7e-fdc4-44cd-85f9-37b51e26d0fd phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:98a650d0-ec98-44d6-a66f-a72dbd8fd634 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ec97b5ab-cd45-4a58-ba84-f5046ed7e9f9 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c3bd2717-c9f0-4081-8db1-0cfddace819c phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:898fc18c-2e54-4d19-8db1-229d3f5b3a8e phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d2af09cb-7269-43fb-80b5-5b9ff97a6d5f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4eb34c5a-c4c1-4e39-be5f-e92b5e4bb7a6 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:96d44250-1b8f-41a3-b645-4e977e9f003b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:095d7d28-0053-4d4c-828d-e1b4f2e80ef2 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:fb0e75ca-eb2c-4ace-85ee-ba488627e52b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d604b38c-d1fb-4ad6-85af-fe5d8ed497f7 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:39d51c9c-b84c-40aa-b989-27b916c7ffe5 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4fa05f67-d039-45fd-8b8c-fc3d7fadfa71 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b20d8427-4a59-468d-a42e-1f33661731ce phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:91317551-488d-4a5e-8b22-43ff13570586 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:efecb509-2151-43c5-982f-ef4065c46ea9 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c2774556-62c6-409b-9c6a-29e47f9a6cad phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:524bacbf-7db9-4d62-8061-ea6e3a5821ca phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:fab3f17f-8f10-413e-955b-cd48e640d421 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:958d6144-e0f2-4c89-9a2e-8cb673495a65 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:61d763ef-26da-45d6-9ea9-ea55f953759f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6c1e8338-9e85-4e4f-92e7-4fce9865f2d1 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:811ddaf4-575d-4dbc-bbe1-4a763262a37d phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cd2ebd36-44d7-4734-b52d-331f1fc03b6f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:bbf87547-75e4-4e5c-a980-e4e4ebe04504 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:211cff9b-dfc6-4f9b-a11d-d390e5b93d70 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7f2c03c-ce82-4d59-ba88-e91a459c08f4 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a90aefcd-c3ff-4888-9b5d-01e8e1c80d4b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:1ab5790e-0c36-414e-8b84-d91383372aa2 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:55943285-2cad-440c-8a0e-ab32a3f9b208 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:34950897 uuid:2da70eec-5647-41ca-a3c0-bd8e58859ec5 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:63395dfa-f764-4764-aa10-0da5280359ce phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:f2f984f5-96b1-4150-899c-de086e639e00 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b219fee1-5dc2-4893-8986-0c94719fe734 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b635ce01-457a-43b9-a826-b54a1a558f19 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:4f82e9ce-6255-44b6-8737-3804feed582c phenopacket.store:AHDC1.PMID_34950897_Patient_8 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observation True infores:phenopacket-store PMID:35716097 uuid:6c5ed0bb-a196-4859-94dc-75e19a5ee035 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1235f24f-8f93-44cb-97e9-1acdfa53699b phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:38ad0010-fe5b-41ff-9e0e-a509ef656d80 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b5a2584d-a388-4e97-93c4-03c893e5328a phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 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biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:0000db7b-67d2-4577-b3fb-3bcb2f0178ff phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f10b7955-6e72-4cb7-9439-87c169aae3d1 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:80412a6b-7c9d-4ca3-afe6-d2584fcb989d phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:a7af01c9-6dd4-4b14-bafc-834143d9f1a2 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0005001 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infores:phenopacket-store PMID:39359946 uuid:358ed90a-e717-46ff-bd86-8fb42d93d4b8 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:7aaadb47-6f43-4757-96ea-74ea1018377e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:8cc80f18-0e84-45fa-a274-ee434866b440 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:704a3ab3-def4-4cba-9f78-d9c09b2e7633 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 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phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:33910a7e-b77a-46a4-ad01-cc4d9b202658 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:1589d66f-59a3-4137-8d3b-c113f5a4023a phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:6fc8115c-8041-4380-84d1-55f8b0edf19e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:1462c709-740b-40d9-9cec-142544e22647 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:62032c5a-baf1-42d1-bd94-3b700d83ffb8 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0701ac57-98b8-4ea7-8e1f-627d07664575 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:f58c75a7-4df0-4243-8ec5-c06ce00ea9e2 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0f672d7f-70fe-4f75-81af-b343ebc67bf6 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e0139372-e8f2-4285-81c0-9677f577d3ba phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:008dd941-6a78-45f1-bea7-0e6d4436c8fa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:73787a7d-a278-4db4-9faa-bff15b4ed67d phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e0311690-e9c1-4581-9800-b0cf0b7b98aa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:a61b25bc-f5af-4557-89eb-7ec759eae36f phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:d5642e04-1e32-4182-94f3-df72dab7d9e3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:b773ab8c-9400-4d1d-8c23-0f8805bce33a phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ec5802b0-091b-49a9-b1fe-377cff0b5f16 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:d6372e96-3067-4c83-bdaa-2629a0ff4c0e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:18f20f95-6f32-479f-8044-7637e1599db3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:98dc2c5b-d981-4017-82b2-b97f163cf835 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:4841afb3-ccca-45db-b841-3144f02d6229 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:28777ff0-81f4-411c-8214-f3092e4247f4 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:2e4f207e-15de-477c-9d84-ec6b4272e511 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:7621b490-c765-4801-a90a-ecd95dbd999e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:92b7f7f4-475c-47c0-9a0d-7d6a3273fb1b phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:87cb5fd1-0a51-45af-9f55-78a543c3f808 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:9e381da2-32e3-414f-94b9-0a92e731a4f3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:cde575c9-6a67-4f3d-ade0-e277aed624b5 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:2c117154-9696-48a0-be3f-fdf10d8de7a6 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:bd1a6df2-1f24-4e0d-a8d2-570b07ed788f phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e9e0b2b6-dcec-40ec-99eb-7023be6eec41 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:df4ecfac-f690-43d4-a9b1-ccad16db70ad phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:56c5e048-138c-465c-89f5-94640b1f75c5 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ddc332c9-a530-44c7-9d24-a2668b3c6faa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:23731fbb-ff1d-4ac6-a4c0-41bdbfbd643c phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e963dc6c-42b7-4d3d-a90f-df68add60b40 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:3ab71456-2d16-4d53-acb0-ebd1d9142319 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:26617e12-32ab-46a4-b6e6-5881eb2d94f0 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39359946 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phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:22dc94f0-9b42-49ef-b50a-d350982f9c14 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d98180d9-e1d0-4e9c-89eb-38cc5c4ec146 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f4c996a1-3ae5-4041-b6c4-6b1486e84bce phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:bc7db13f-625c-4f2b-b6a8-3ba6888c5f6c phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d9fa5cc1-beef-432c-8aa2-7fb8abe3b9f6 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5954f9e3-5246-412f-9015-4a04176ffe7b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c267d52c-c560-4d0a-96ef-d7b8d333c22a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:404db168-324d-470a-a035-436e143f92e6 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:97c27781-9ab5-4d0e-898f-a0afdf830c8a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:75c77f95-f3cf-45c5-b403-8d6e8b68c8fa phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c217c769-fe3e-4a40-b693-006ddead7130 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:35c74885-12a1-48f8-b89b-73313427d5d7 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:36dc358f-4124-4070-97ba-659fee715975 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:71111373-7b82-4874-80f5-b7f13e76be60 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:cfddd56f-10a4-416a-b3d7-7a6b8107da5a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:49a605d1-ba11-4361-8d10-baac38f2b986 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:25aff900-c417-48ed-a8a1-2cd1bd9a61ec phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1ed3cd65-0e97-4616-a2c6-04562b2cfc73 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:80764c3d-2d45-47eb-944e-26dcf3bc0fc5 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ea61df46-f36b-45b8-aca0-0f0b915f1faf phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:7f46fd68-e2e5-4c1e-a1dc-728f3b993b32 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ceb51ec8-5e85-4d0d-b912-5083feda3bc1 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:efe79a38-9194-44a1-aca5-a38630a80f7b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d1b838b2-3148-415f-81b7-89fffc1a176b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a0e34606-7d73-41e2-b43c-0d00ac3f5120 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:73976092-457e-4409-84a1-0f7e8fcebbaf phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9de50392-0f52-44bd-b16a-30e9e59f89e5 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d8adf543-dee4-42de-9736-355e579c283b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:fa9dbabb-8b4c-4335-a28a-b310781d8d4b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c59a7fea-fd39-4d46-bd81-30029ac02a58 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a7f1da05-8c0f-49e9-a1e6-bcaed744e354 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1a586d87-6092-49e1-a31c-49e5ec52b9bd phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ff1e654d-1871-45ab-9d3e-935137ebb746 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:c2afccb6-727c-4bd1-85b6-f4829082a3bb phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b2e76a5a-f3eb-40b9-97fa-3b4e807a577a phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:e2e7d350-488f-4ec0-bdf0-51f02ef88c00 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:e0e18ee9-5c7d-41fa-93c7-5444fdfd4a33 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2f958868-523d-40aa-85fb-4c8ed991ff82 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f1c7ea8f-0d97-450f-b277-990fb392bbe4 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:96a80feb-2eaa-471d-910b-1339f81288b8 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:dca75adb-588f-4e3a-a858-c87c3e2e609a phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:68f2bb26-e363-451d-a476-daee1a851e3c phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:d792f071-a540-4bec-89ba-dc2bd478c6c2 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1c28f164-5fce-4e7b-9734-f719f34328f2 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:25282b1f-f05b-49be-b04d-60356f1c0cef phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:cc2442bd-1fc1-48d4-a32b-c48f0dbe4fa7 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:57e62820-a9ee-44b6-a768-d27fc9b1f215 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d13fc303-b393-480e-91c2-c881093bc29c phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2628d5ef-f7ff-4c27-bcb6-9a2a274064de phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9f1e8585-4a05-468e-a01b-3327fd15d658 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:74002927-b11a-4d2f-afad-b656d05c81a6 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d96aa194-296e-4a40-9774-45e53cac2603 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:aa2b7ac2-5a51-45da-9663-853143e496b9 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:19f51d94-11a1-4589-96ae-d7e789bec7b3 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:4d36b038-2db2-48cb-b509-524202ccb52d phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:727f77d8-3b5f-4f1a-ade5-3681e41ac996 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:6af8fa72-7c54-496a-acbd-889cd13fb0a8 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:8911521f-529c-423a-a906-d52654bdc024 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:ca9105db-adae-4691-838f-a2134b99c115 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:34950897 uuid:e1dde735-5400-4649-ab22-c7b4cd70be65 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:55067b16-f6ad-4d06-b7af-3c0d325cfd06 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:ccac4c07-2691-49c7-9182-f53bd9c6977e phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fa270134-1d00-4841-b1ab-33c2c04134e4 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:09fd2c5b-4d45-43ff-8435-89211e6f33f2 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:1aeb7759-adc9-4c77-891c-c615f1408c09 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:6cf6c042-6ed6-4e04-b359-e10b712eae5e phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:c7dc8b05-48d8-4505-9962-642484be38b4 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:915ace7a-4e48-4c5b-96cc-09272abddc4a phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4b2bd013-1233-4918-8c2e-d37075339d8d phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:b08bf193-4e0c-4744-926e-ea9c9d4fa3e0 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:75f8ab14-5941-4132-b70f-e211c839802c phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7c3b42b5-19c4-4e5a-b249-45b27f7f5d20 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9ae623e3-1ddb-4d71-9b8c-e4d8dc0fb8de phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9dec0608-d097-4607-993b-de00ed6ab8a1 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ee153bf8-b8ca-4383-a767-14524983c911 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:56fee1ff-16e7-4d13-b01a-d15caad68f57 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:97a7ab6d-75d1-4488-b6bc-b654af9303a5 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:2a6f502c-a6b7-4ede-8121-2c9277a5d06d phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:33d473f0-7cbd-4011-a916-1591c51d8984 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False 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phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0f3f3929-7ca2-4310-a275-8fc0612214f7 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c02262ec-ae8a-461d-b008-9656dee14ebf phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:107aebd1-60b7-46da-8419-749b75d5fa69 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9aaff361-a9bd-43f8-990e-a734ec15a048 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a2025c28-8480-4b33-aceb-55b837b8ace0 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3a9fe7ad-be0f-435d-b6ce-ac1ed1b57a98 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d5be767c-d5a1-4067-a9e8-ce26edd2fee4 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:56359d86-52cb-46c1-9293-ae05d8fdcf16 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f57c60f6-3339-4103-9446-6d85d55d5ef2 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2289c946-4fb1-4e2c-8a8f-59480f28e53b phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3f535048-c745-49cb-8f8c-de89c0b9bca6 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3dcffffe-c352-442c-b147-1319495421dd phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:30e6e53a-feb3-44b3-be50-66582cd54b2a phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0c818e26-57fc-43d0-b9bc-6bb58255f15b phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:13d45f8c-cf44-47ec-ac8a-b8b6af5d66c5 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a5f8752e-7f56-4c5d-8a71-6b40538da626 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7f7228f-e4e3-4527-956e-c1def178f2b4 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0dbc37d4-a05c-4546-870c-b138750564c4 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6db27f0f-8da9-410f-aaed-86cefd95b855 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:de96c11c-0534-47c6-8eb3-746ed9eb5b44 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:30152016 uuid:b2ce2f53-ca00-46a5-a54f-0b4bbaa5d51f phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:30152016 uuid:67d0e033-223f-4993-9578-ed460b05923f phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:9e3d4a0c-e30e-4f3b-87a3-cac9ec7933c2 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cdf09bbf-39c9-4709-8541-749729ccff56 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:aa7e8919-f610-46bc-b334-866167fd8a9e phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:5c098319-57c7-4bf7-a080-c95eb6b6081a phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:6811a03c-d677-40c9-9417-c879e857c49d phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bf5c4cbe-53f4-4645-b888-4e61741f21f6 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:0265bcbd-e605-481a-bfdc-fb14c0650b51 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biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fed49e41-7333-496b-b793-e279f8bad5f0 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:89215713-2c4f-4337-ab06-9e756a19a268 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e8bb2d8f-f588-4fa1-b617-af63a0dfd32c phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7e687974-2d4c-4447-bfd1-13bd9c3f9614 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c02e8520-dcec-493e-a6da-1bb2d715a9a8 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5b054a1e-d8fe-401f-9136-43909e48b21a phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9757b3b8-8dd7-454f-b464-4a2dd03df42d phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:295fed92-f4f2-4c51-b089-05c94f4d6081 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5076096e-7d7c-4810-b9fc-dbf2917e651e phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ae6517e8-c561-4eb7-a405-fb8cb624f420 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e3d726d6-3079-46aa-ab26-0f29f3553c67 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30152016 uuid:5a7ab796-0556-43a3-a50c-9cdbafb6dd2b phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 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phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a689230c-825c-4043-ad8e-2e644a7d6b3a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a1f9614b-96a3-4558-8fae-264d4375515b phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f253591f-74e3-491d-9d75-ad6107dc2906 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bfd50ee4-253e-4b12-96eb-1fb3c5c00904 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bb3d4878-eb4f-435c-9fc7-1f8233aa2fda phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2bf3f707-2eb4-472e-98f4-b56b3e270e6c phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:029cb666-7821-4883-a0eb-2ff34281b03a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f2cedbd0-5560-41b2-ada2-fb123d4bbb4a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a7f444e4-35e0-4974-b67d-b4472f73ccea phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:55668412-059f-4e1f-b69a-b9788b946c97 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fa37557c-0596-45f8-8c55-e27fdf0e3dc5 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fc5a5676-6390-42fa-909a-aa01b27de42a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:1bc36787-bc5a-4cce-90b6-9f4d9cf8f95e phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:d5c9f32b-7251-4b74-b404-b2f8ffb4f7bf phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9cfb6114-3ec2-46e6-9d75-1759227320e4 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1e884d8c-9f9b-4615-823c-5cf55a5394b6 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9104c9dd-e2bd-4cf8-ae1c-af817e5e6efa phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:afdca39e-66a9-49f2-872b-0aef7c34789d phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9084739d-9cb5-463b-a97e-b74c876bb3f4 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c2464cbd-c3b2-4ed1-bf4c-6b547db1506c phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:650da895-4960-4de2-8aa8-71418f46ebb5 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f241099e-dca1-466b-be6e-5523532f43f7 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8ced5c35-10e3-4e2c-99bb-84f50dfbbc43 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:bff9f04c-dfdf-49b5-a941-5d922a19ceae phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:44fea198-a928-470f-999b-d1a1bdc7180e phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b6127aec-e4c7-4374-b338-bbd3181e9c4f phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d6847d28-4a12-47e8-974a-c1e5fece7042 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2217f180-f13c-4422-b6d0-2eeb576ca406 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:19d91aa5-fed2-4ea5-bab2-509d0c401fe6 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_gene 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HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:5a985cb9-5df3-45aa-a4a6-3872d5878bb8 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:ddae370b-e552-4ef2-964d-a2164de4f794 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a7d446fa-bdf0-4a74-a2d2-9193e169758b phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:232f06a9-b2fe-47e8-92ce-6747ffc84903 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:253f8cf5-5ace-4d45-b697-cda78df56bf9 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:96ba7f91-30d1-4b1e-b376-52b80abd03e3 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:82110cd9-b9c8-406f-a4cc-745d5908a838 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c5102dda-460e-41ab-9fe5-ee8c03f72971 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e171d662-e27c-43e0-a93b-2e73d1dc69c2 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a9107055-3505-48b7-a1d8-6f8a3fe7eb64 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fd056022-188c-4b34-9e70-c89e89867148 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f0020e20-39ec-4311-89ea-88faa3362ff5 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2953da99-b388-4010-bfa6-79240d9762f4 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:b19a9bf5-d855-431d-9f53-c73b29422b96 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c72ce96c-5f95-41e6-b8c4-884e41bb4bbb phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:346f5591-5dd8-4cad-8e5c-5b1f8b78675c phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:ee3be997-ffde-4777-b3ff-d35d88d120b8 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:c64693c1-c1d0-4cef-b875-27b53fbab568 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:16965330 uuid:eb754877-eec2-4d85-a3c0-cea01bf4d6d3 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:16965330 uuid:921b6324-c460-4c5b-9149-5813b72ee928 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:16965330 uuid:2ee23ddc-16cf-4059-ba56-0d966c6ff1d7 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:1040b756-d778-4cd5-af7b-9bdc978250ba phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:16965330 uuid:afc7272a-3ce2-4b8c-b622-ed2f671cf23f phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:91dad036-59ad-4938-9036-7473821d822a phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22024611 uuid:60b604fb-ad8e-47c7-aa60-25e1e28a6d7a phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22024611 uuid:dae740a2-8171-4074-b8ac-a8656b139e63 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:a5cc8e47-426a-4836-88a7-5eed096ef7f0 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:e6592169-1da0-444e-a944-3b1834afd929 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:2c440617-78ab-42ac-93b3-3dd6dd89e877 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:baf27fb9-a2b9-40a2-a8b1-4988677f11f5 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4cb16c3d-1424-497e-982c-1e93289dc8c4 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:42b897ab-4888-4b9e-933b-efa328c6ec89 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:49ea78be-3e94-497b-be89-537eda963253 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:2d194760-82f4-40b4-82b7-ba6cc1131c65 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4da313c9-f84f-42e4-b5d4-b1682a9057bb phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:d871867b-aa9a-4628-9995-e6c0f9efb97f phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:07e5f363-fe42-4417-993f-eb227396966b phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:02816a4a-de62-4d57-9e2b-c80df7179f80 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:f00e4050-4914-4ab5-91d5-8594ce607b3d phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:7c1aa826-0d68-42e9-9596-d2e51fb16bee phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:597ab5bd-122e-4b9a-ab4f-ec1d0d9cba50 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0034189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:15ae5f04-1f86-4967-85e9-937682351123 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:22024611 uuid:b099fa95-3a97-45da-9c67-7ebf00bd5a45 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22024611 uuid:4a490f42-4aa5-43e3-b227-e9ad5cfb6ad8 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18616706 uuid:30985f4c-1e9c-4fa2-a460-699834b34c8e phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18616706 uuid:e47a8238-9567-4ad8-853a-dfd289d8e6b3 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:18616706 uuid:ccdee8d4-7ec4-4aa7-9a26-781b124da461 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:368e4922-7bda-4332-a56f-c7180b906464 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:7d32ca47-589c-4ffd-bc52-97921a360a23 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:378ce7d4-d971-4766-9667-75de60951975 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:0b264f9c-648a-4fbd-b48e-e9a0ffa811bc phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:75b3396c-cf7d-433e-801f-10061dc0b7d9 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:82511559-ba03-4d0c-afe9-00f1bb5600c2 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8e8bcddb-95e2-424a-8af9-f33edae9cebb phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5da40ea9-bb9e-4c3e-9ab2-825de48cad59 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5dd6f472-08be-4095-9fd7-9e5810a839d3 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:fdc3472a-9bee-4819-8d44-7ba267aa6f44 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18616706 uuid:0e4361bf-4f09-4b70-8651-8312bba9e8e1 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store 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phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19807739 uuid:f7ae4000-300a-45c5-a330-8bf6fc334382 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:0ff14f4d-c77c-4862-b4bd-5ff9210d03c1 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:95ea2ac9-a4d6-4085-b275-3ddeca1f100a phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:a71d95d3-e2d0-45e2-9537-b331c0c588b9 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d6fe30c5-e8e8-4cb1-9fd3-cffa9ead0220 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5cf20233-56ca-4dc7-9384-807876034790 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:dbdb8cce-9b35-4b45-8ae4-4c464162fbfd phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5de6cee9-2d1e-44b1-b527-a1c891b1ffe2 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0002024 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observation True infores:phenopacket-store PMID:19807739 uuid:0ddef93a-4add-47d2-9606-99a095c9f148 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4dea9cce-6376-4382-ba31-1582a3e3fa44 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f47f170e-795b-4399-8349-f267dc25524f phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:56943f36-ee40-4b12-9cd7-7e47fb1fd8ae phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 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phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:c8c28c05-1713-45fc-89bd-3eeffc065866 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:16965330 uuid:0fa43ab4-14ea-414f-aa7f-01a6d2c4d602 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:16965330 uuid:5576131f-5ac3-4c0c-b2e3-71cb2e5bffe4 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:16965330 uuid:0cc3283a-ea60-40f6-9697-6de5ba99f60e phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:95af1f1e-add5-46fc-a6d3-15ce053f09fb phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:6daf93b5-e6ca-4a42-8292-5c5ed9548a16 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:5bb852da-11e7-448a-98d3-bbda0e07b954 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:6a501c0e-6528-4cbb-93e0-fc24337982a8 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_disease OMIM:240300 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fd4e4723-2606-4a81-817e-0bdfca1430d9 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:80c90617-b08f-43f5-9f14-8696fe31aae9 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a3c46c92-3b40-40cf-86ba-b7be3fb0600a phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f2a93a17-4d7f-417e-b347-d943a5397358 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:13edbf32-5d76-4bdb-ae51-f1bdffaa46a2 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3eb084b4-10a9-4bf6-aedb-5846bb6406a1 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2779166e-0685-42cc-b2e6-414a8d5cccf1 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cd289b2c-a128-41f7-bc63-653a452d97fc phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a3b5b440-ee93-46bb-a0a0-ba10d13a31a7 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:f57978ca-d5c3-4a1c-b309-f2c5e909c5f5 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:93256ba4-22bd-449c-af6c-88c544c1e50d phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:16965330 uuid:75c79928-9cc4-487a-8b42-d2c321db8554 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:16965330 uuid:08b972c9-1d69-421b-9f34-afa83ee5627b phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16965330 uuid:a32c628b-cdf6-4c24-816e-7aea5552beca phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:7deddbd1-5d8e-4cc9-bdd0-7cd536611320 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:83152519-5ce9-4a45-bf0a-330af8dfd41f phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:8d792b23-4bc1-47ae-8146-1e00708db2ce phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:14272493-5414-47d2-a00a-33801ce91a52 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:5f984700-d10c-4be5-ba8a-cbb2bd5d2995 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d8e757e0-04ae-43dc-ab00-513c43526deb phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:16965330 uuid:d6db9291-9ee1-418a-8d83-f8e0e392ee5d phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:a4c0c9eb-041a-4311-9729-5d0687d8bee9 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19807739 uuid:fab588a3-2770-45df-9d5b-07d8c24f4db8 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19807739 uuid:0ab2e852-84f5-4a7a-a9a0-f1fe04b34317 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19807739 uuid:66240f53-6120-44d0-98bf-7a36bd1f75e9 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:491851d3-aed2-4b55-b0f1-28bc5962058b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:e6501de7-382e-434d-b9de-4b929ac57a60 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:9ddc9a64-14fb-4c63-891c-60486271119f phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2db175cf-2100-4c89-af21-0976f041c332 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:994068af-5341-4fb7-9cba-babcdafe3bb4 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4f720ba8-4489-4c73-861b-08e86be95a76 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f914f08c-a669-42d6-848a-2616a0905084 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2d58178c-3be0-4139-95d5-fd374ac33fda phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:26d5888b-e4d8-4425-86dd-5d1d84efff46 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9ae830ab-7090-448d-aeb0-665ffca30c58 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5f0a65b4-726e-46de-9326-d7f99bf4b7bf phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d0c49507-d56f-4a23-ba90-7a1b1da2dfbf phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:00e91153-8cd2-4217-bb99-dec6b23771c7 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:934ad3e3-137c-4278-92fb-5505782c08e0 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fe92715d-dc14-465d-a808-e926af50f5a2 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f1c35d03-084a-46c2-a6da-93bf0d0d923a phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e797820e-503c-4b81-a037-adf520daecb2 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:0e089459-446c-47a6-9b07-2ef3cad8923b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:22b8a3bc-17e9-4249-a3cd-fcb134f65f50 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:19807739 uuid:5c4fcb0f-4afe-45ea-89dc-bb7c9da3ef1b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:10ffdc07-8098-44cb-96e5-4478ffecaf98 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16965330 uuid:dba95fbc-b99b-4bc9-8f1f-45e4f1cdb33e phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16965330 uuid:888e4a33-6881-49ff-b88e-535e38f6323f phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:641dac83-17db-436c-b8d8-bd66ac4577c5 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d301e76f-70c4-448b-9728-3c6dc8a10440 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:16965330 uuid:c2e287cf-5d05-4403-b951-66072ee1bf29 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:ae64d1a6-a6d4-4e17-b939-06bf6e557381 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:18616706 uuid:bbee204c-c493-4eeb-8f83-3bc155451540 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:60452c4d-f990-4eea-9b54-5a97f40b7882 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18616706 uuid:092eafea-0b8f-4573-8434-7cf98b8f9f14 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biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:9e3a20b1-77ca-49ea-a5a8-3a7fa245793b phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:d3afba7b-2fd6-4d4c-b52d-75ae2cca2b79 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:bf0b3451-dd88-4c88-95b8-bb7d7a0bc4f2 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0034055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:cb08277e-194a-46fe-a5ce-5b0a8780a67c phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0001596 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observation True infores:phenopacket-store PMID:19807739 uuid:d6709c7c-c9ee-416b-b8c7-524f96bfa5e2 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:29d783b3-d1af-4240-92d8-4a8e7d469932 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:97f58385-d95f-4031-aa49-9b7461572fb1 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19807739 uuid:c2c511e6-a4f4-4ebd-831b-19e1acd89baa phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 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phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P5Y6M infores:phenopacket-store PMID:16965330 uuid:182a9b95-a310-4bc5-93f8-af5e67b0728d phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:d4fc6499-7494-4225-a729-763370d15532 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:62338e44-0148-4952-83e2-4cfd105dc8f3 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:31895c35-a058-4138-a30e-e4b003a5d5cb phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18616706 uuid:6e444241-f2cd-44b4-9ea0-0a2fd8a09b38 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:26a7b0d1-4217-462b-91a3-96d0843f797c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:55d40fe8-f60b-47a9-99f9-50669c7f78cf phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:840f2bd3-6231-4c28-b48c-65dc2c2cbf6c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d69b0602-481e-4d15-9266-85e3bd0247a4 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8d7934a6-cae8-4f7a-bb08-c1d28dcfcfc5 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d18b6532-999f-4f53-8726-d20233851b42 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:acf492f2-d3f8-4694-bd67-7e762a174a7c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 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phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:d4a2b92a-3f68-4355-b58e-9f1320b07469 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19807739 uuid:511dce3b-7d65-4dfe-bce2-5811b53d196d phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:b024044f-af43-4d54-bf7d-e67e4a898725 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8afa3ed9-da09-4d1c-8f77-8d25de947932 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1891a356-ad7d-480c-bd94-45c70361518a phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:62cf3ad5-88d8-4782-862d-8d3023b2f067 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:13e79781-8b50-485f-b3db-af7a7ddeb2e3 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c840e44b-b9fc-485d-b1be-91cd4e2fe643 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:11f13a2f-2de3-479c-90f7-bf602483e1cc phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e97fd3be-7e07-4acd-bc4e-27455722fa35 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:386c7ca7-90d6-4079-a1ed-66edb8d45955 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:756d764e-5e1e-4b6a-a02b-6d45869741ec phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 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phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e2e2bb56-12cc-4933-852b-9ac96faab466 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:bef83000-6750-44a9-b5b0-113b2dc942d8 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:19807739 uuid:f1aee091-3b63-4bbe-8b10-b67680bd5142 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:1ac0d2a3-13e1-4b78-9edb-e97d9e7e0adc phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:7f7ac99c-eed9-46f6-a453-b7e1ac2db3b5 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:b56c7f76-2a39-4d8d-b418-3f847b59cbfe phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:01ab4d8e-8e69-4be5-a35d-a404c7495fa1 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:adbdf29d-452d-4241-91d9-9439499a9d4e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:9e0c0c4a-2da1-4009-bdf2-7c8a000bd607 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:5042a407-e354-4054-aaad-c06d2e9c3287 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:eceeb8a2-877e-4d10-a071-27079428eb07 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fe01b305-e519-4029-bfdf-4b59dd6e1ec1 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:94646aeb-83ef-443f-a961-4cace3c08146 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7962ac84-ac4e-4b57-a863-e42db9267e2b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a5168ef0-87b8-475b-931c-d0586e5a323e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:751c82d4-1b74-4bb1-b61f-02d831ca2880 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:4b087c5e-9b39-44fd-950e-766af0b59e86 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e262796e-fbf9-4692-b4ca-998072840dba phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2448af04-278c-473b-8b6a-e99ab660d63b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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False infores:phenopacket-store PMID:18616706 uuid:ccd1fd19-0c9c-4099-96a1-ac010f613594 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:2b65f49f-7ce5-4a60-b675-bf2fdbda5db5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ca40b22c-e3e5-4637-968e-348b02576361 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4c1db337-f0fa-42e3-80f3-a784dc2475f5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 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phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:351933f1-6af9-432d-a21a-a232fdf6c556 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18616706 uuid:8f895ebb-e880-4d2b-a5a8-7e7eae0dcb66 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:da0cad6c-ca8b-4aad-8880-dc49501bffd3 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:a30e0f90-a393-4a81-ad44-3cf7f29e28f2 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:9e2f0757-7ab9-4c6e-8740-6a4454791549 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:6b1bc6ce-e490-429b-911c-c6a6aaa5447d phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:35365c44-22c0-4106-97cf-f903d0ca3b9c phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:5809b00c-02cb-43ec-add4-45c72a50c7b9 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:16965330 uuid:45ae9232-c65f-4f39-8029-ded8e8b923b6 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:38b52d06-f85e-4d2b-82bf-ca4e35ffa448 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19758376 uuid:a2a9ee30-b075-4c78-9c5b-8d67c3d07c42 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19758376 uuid:5083ecd5-05b7-494a-a700-511e09922e6b phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:34278f86-548f-4f19-900d-7cab47bc5dbe phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8d773df2-d980-4846-adfa-e902fe91da6a phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:207849e1-bb33-4735-9236-09a41ca26ca3 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:58e4c895-7ce6-4612-b8b4-2172b6388dc0 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f05a2974-dd95-45e9-a8c0-a9521ed9cdf3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cf3f8d99-a553-4b9c-8674-e061d41077ef phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:ec12d82e-534d-43a6-bc5b-86c6fdd186f5 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:9b97c431-9a52-4480-bb5b-1209ebbc8152 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:70473185-1578-4a8e-8203-0fabe0e6c59c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c7e5e78c-b725-4615-aa1e-116827e81e0d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:6ae15d4b-204d-4a3f-900b-a017774f719b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:314c0e85-d769-4424-a4f9-e11fbcd9b552 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0002728 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phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:07d39b8c-2ec5-40a6-bce8-50566df06bca phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4ea9d42d-005d-407d-b8b8-07fd5e21f03d phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a2b6cabf-2599-41c0-ad77-caf12123a951 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:40e138c7-a1ea-4ffc-b806-652289ff854f phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1b3af8eb-5936-4512-838f-95bdce917876 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1eecfe57-82dd-421e-a317-87442caffd7d phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:eb0c9ab1-a193-4346-8487-648f1bad3aca phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2ce9a747-852e-4309-af3f-326b0f6f0203 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:29a303f9-8340-4ea9-a43e-ffb59a05e9a4 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:19807739 uuid:e375f2c1-1abe-42d8-9b01-e4ae53e991dc phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:a505e5a6-6684-4fb4-b686-ed1981aada03 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19758376 uuid:1abd7430-ccff-4c43-9fb8-29b21dbd9a3b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:19758376 uuid:b26c7cbd-6e15-441f-b06b-fb8b6ee42bd9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:6e85631d-464c-4b94-92b1-083c439df490 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:886af530-aaa0-45ec-a308-ee106270f3a8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:86829a93-4f8b-496c-ae92-e77b58d31fec phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3243ed6c-dc7c-4d0c-a126-c9a50e057139 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:d74c2279-fd67-408f-95d8-725461c22d8f phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3af76dee-c4f5-43f4-95b8-a36a784ffc14 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f2565c29-f695-4b14-a4c1-ec9ccdc02b4d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c1315859-4e14-4ae3-bdc2-6cd2150eeac1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7f334ff2-ac61-425c-b1c1-c6ab7af64fd4 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7b0af801-a049-4bee-90a1-eea7e3f20da9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:717d8e70-2d21-4202-9214-73c7fabe827c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:5dac92e5-fe8f-45f8-87e3-786fd1c1c565 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a5007a79-8542-4896-bd4f-d96beb4582b1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:1d84e47f-4678-405b-a629-b44a429df7da phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:d4646a7a-5994-4573-8835-21c503ba5f64 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f3a462ee-7c54-4001-b4a5-ff3a36ac0507 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:acdbb645-52cc-4b33-9bb5-38280c3bdffb phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:19758376 uuid:48a1518d-4d30-4644-a504-710e79fddff8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:89a2d8da-986b-4e2d-9417-2916fca228ec phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19807739 uuid:a45abd4d-59f1-4264-8659-8d872c2ea223 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19807739 uuid:be2d0a9d-43c6-49b9-9364-4ac06d7f4b33 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:19807739 uuid:c165a239-5ded-4b42-ac8e-353767103dbf phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:ff4bf006-2ed9-48a0-b5c1-427483832643 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:90619ea4-1aa0-4f4c-a6b6-fdd2f5e4d16e phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9b5a7211-6743-456c-a881-154894e7ab1b phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:869f1bdc-b63d-460b-8eb1-064e62252fec phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6cdf33f3-bf00-44ee-91eb-3a34ab67dfff phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:b66ccf1a-3327-4e52-91e5-4c997e15663a phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:24dbe26e-951d-472a-a0e3-e66e72c3e1ff phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6af08c6e-9a37-4802-99f8-93f24103eb03 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e7d86166-9c0c-4d22-8766-a7dd77951f01 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:84fae6f8-5238-48c4-ad62-09704ec36e76 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c7a89034-7d3b-41c3-864c-2082a8712def phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1f732908-deca-45ab-9de2-4ffa4e15c4a2 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:081fdfcc-022e-4b62-afb3-03a6a109fea3 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8529e5cb-a4d3-4575-a870-5a54d03662e2 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f9e6366f-6439-4aa1-9216-e0e804778df3 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6de70b18-9716-40b2-8eda-acf402a9ef85 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e99200f7-3112-49d8-bd3e-baf6cbc0919c phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2ae23785-b3ef-4125-9229-9dc052157c45 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:00058802-f970-456e-9470-1893f26d79de phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19807739 uuid:a6d95f48-1304-423a-98e3-98e3c3e466db phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:b32cce21-24e2-4713-93c8-cd15b949f5fa phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:56e3f14d-0edf-4813-ac09-8c25570c8bd4 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18616706 uuid:aabe06fc-c075-49e7-a879-7105ca599b77 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:18616706 uuid:b5a33bab-ecb5-4635-ad32-643a86870281 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:5e978865-30ee-4501-b8f2-f2fb92001ec3 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:1fc048ed-a2ed-4c67-9d38-7e779b655216 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:42ed9f85-111e-4771-aa62-05b5d5f72b92 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:b1c0a9ed-6d59-4847-9ef6-4ec60cb76498 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:88f34104-1186-4dbd-a0f2-91782ee1ccc7 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5da29350-3468-4b2b-9308-8b5230c398cc phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d12b075b-82de-4f57-9286-fb3bf486ad32 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:edb9cc45-5f33-4be2-baaf-9dbc8bff3842 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:51785f27-39f9-4eda-95d6-f42d693960ba phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:cc5e7225-c929-4d09-8813-ddda993a752e phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18616706 uuid:623fcd57-64fc-498f-be32-35d02c3dde68 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:f05f4811-ee89-4c27-bb9d-d0c09e1105e7 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:5e15ad2f-3bdd-475a-a7ce-ea49ee660fc7 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:ebb6825b-be66-4b0b-a9e6-4b44d8627882 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:ae0b6a4c-157f-41c7-bf7d-442d109ac253 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:b2782289-dcfc-4141-99a6-703abe4e7a1e phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:0ba71b58-86d2-49a1-ad68-5403db06cd77 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0003642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:77eac8f8-235f-4d10-9a77-5d2c0f6c784e phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15148656 uuid:436bb2a7-359b-4f2f-b297-b26f919305f5 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15148656 uuid:2278622a-0d64-4f7a-a2a8-a63cfa59e573 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15148656 uuid:6e554cde-fd80-47b1-9981-95a7044db1f4 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15148656 uuid:49ac001c-3f3d-4a34-9839-0818c066eda3 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:0bf8a825-01ba-4b9f-80ae-e016ff03a9ce phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:83da913f-134d-4e14-ae9d-8cb52bca947e phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:5140e970-c41a-4768-9cee-8b722cf611cd phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:af96ae18-b58e-4fe4-bcf4-b97866448ea5 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:bd4f2cc6-06e2-406c-b5a6-6bf29a4f3abe phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f28b4e3c-9df7-4dbb-b9df-4f6f74352bea phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:c1a0ec55-f65e-49d2-915d-a6e4022cfafc phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:f625dae8-aad8-4f3f-b4cb-93684a6ba929 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:3695e925-6c70-44f4-abe0-d025f157d3c1 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:7590e027-258e-497f-881c-174b70074397 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:7a3c65e9-20d1-4af5-967b-f406be0d0adb phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:4d83de23-3268-48d8-9a47-d6cededd1d7c phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:bfa045d5-c26b-46e5-92b7-8466c369dcb7 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:15945070 uuid:e2b5e9c4-5d28-4774-b21e-75c4b88f1d57 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:15945070 uuid:114e0a78-ba4b-4a52-ad7b-3ca89505112e phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:15945070 uuid:4ba29db8-e6cb-448f-bd68-5bcd1208d835 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:f235aef1-bd65-4e36-aa40-de8bb4335aaa phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:ffaf1ddc-14f7-428c-aaf1-6055758081de phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:2458eb5b-8861-4037-8b88-4721a4739bc8 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:b88fd33d-ccc0-48d0-8322-982aed3673f7 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0003642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:68e60bc9-a9b3-4ee0-8412-5b7ff4e2c51c phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:af9a0f77-d6af-4b3d-9d0c-c212763e9640 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15945070 uuid:39c92a94-259c-42f4-b259-3c02431d4c08 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15945070 uuid:f25cd7d7-fc8f-4070-81c8-8039a67fe495 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15945070 uuid:a40409a0-33c2-4fe1-8822-6e8bc239daf9 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15945070 uuid:982e20bb-34d9-4b4e-9275-e98aef5f7e95 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:3a1ef187-a16e-463e-a3dd-992a4ec15f06 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:253e6761-929b-49fa-86f4-48f85e7b2c9b phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ca8ef13a-a634-4bd0-a0b3-4c9dee246b10 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f50fd97c-ad3f-47f6-8f69-ca2b981a41cd phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:567fac75-9868-41c4-8e09-89ec0de404af phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:b585e4b0-db24-4ef1-9bd4-4219f1cfaa19 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:131aa916-7a41-4c58-bdbd-0652a40b011e phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:6fa231bd-b9f4-4351-8ee2-00e27ffed251 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:fe7ac413-1b05-45c5-8425-7dee69dbd59a phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:7a073386-0b6b-4806-9933-c1b4f167666b phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:98cf7e38-8a04-4831-ab5c-776f412f1db2 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:bb4fc3d2-613e-4168-bb1f-585b15914f02 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:8ea647ec-d99f-49d6-87ee-2b152abb4f0f phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ac41c3fb-2d48-41ac-af27-d73b3d72938d phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:228df060-05f5-4200-a846-a096caaca378 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:06922939-a3a9-4462-85c6-ab1453ed7ffe phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f099a585-8c3d-4330-a460-ecf80a8a6711 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:663e95b5-3ca8-4ac7-858d-3da7d15231b0 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:9a06ae18-a5f3-4fa4-ad68-4e5501510d26 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:58cc8e7d-bace-4ee6-a611-8941a3bdbf51 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:64061911-b88b-422d-b30b-04f3583dcde8 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:200256ae-846c-4b93-976a-c52dcf2696a1 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:65484488-26e8-44fa-be03-a5e7243930cc phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:99fea513-f929-4008-9398-909df99a0ba1 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f541b6d6-f71b-4f7f-ada8-2885ad7d3fde phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:9b5163d9-a2f4-458c-81a5-f901dcf55cde phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:34539b9e-b3fb-410b-a4e5-b5ae1f48435b phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:161c3b3e-8cd1-4228-90fb-c409ba4103ee phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:8eec3473-2f96-44dd-a74f-e4f1ebdbb956 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:cefbdcba-a2f7-4cd6-8637-0915af3fd915 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:4951424d-f65d-45f3-a77a-8bc937e951ec phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:74b9ec28-7f2b-4345-a0ac-14f8538eb7f3 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:b651cd8e-30d7-41cd-9dcf-dd732bfdf1ad phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:a99bbc00-46e9-4963-a3f9-510204694ecc phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:854d8c12-f255-433f-a25b-f2db2eed0c53 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:65da4adc-b55d-4e00-99eb-e4e0442ac32e phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:5cde9a1f-b0d3-4c65-9853-e865b16f9fd9 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:2eb02daf-d667-45f1-872d-ee2095575fbc phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:0b5e1b0a-1e61-433a-b0d1-ddce2cc8ae38 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ba679bb6-06f3-44c4-a92c-14a8ad334bc1 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:a4d1cfe6-53b1-425c-8bdc-c7c49425adee phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:f88b73b4-6646-41a7-9368-6b754ac4e38a phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:67d927c8-a9f3-4191-a63d-bcb735c3c9e7 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:4292097f-b9c3-4e7f-95f0-4e96c211dfed phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:cc8ea33f-c2cf-4925-a735-320c2372171e phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:be0cc118-a967-406a-a290-c06ca6b983ba phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:ce0c4f48-d00d-47e1-b487-180dbd4a5ed1 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:a7459a64-c279-4f3f-9fd7-3a2060254183 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:bf384839-f7da-4c3d-90bc-74dd7ef17894 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:26040326 uuid:890a4df7-c4dd-4636-86fe-c968ee1a88e0 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:b46579a7-7a8c-49ac-b232-96bea32cd4fa phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0100502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:48cad10b-fb59-4cfe-85c7-352cd40a46e2 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_disease OMIM:618882 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26040326 uuid:27b475c9-2d45-4f3a-b9bc-d6c990fc0b5c phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_gene HGNC:14604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26040326 uuid:6d6d1f24-8328-439d-9367-ad98342d23cf phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26040326 uuid:14b58d5e-5ca4-4938-86aa-6a0cc468ad22 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26040326 uuid:bed76228-2aa4-4c7d-aa05-18e7203c0103 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0100502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:ff2dfe2a-a8b9-4a23-ac5a-10704b6c7da7 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_disease OMIM:618882 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26040326 uuid:13bd08b8-b8a8-429d-b265-c44b10311aad phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_gene HGNC:14604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26040326 uuid:c1e68a98-386f-4bce-8285-cd2d7a0f0477 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c70a9486-7e22-4d65-8f18-7635c76137a1 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:06207543-1ea3-41c9-962f-f205cb1eb010 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a91e0be5-0209-45fd-ab80-a60a26458fe6 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:e7e69fc3-eec9-44b7-9f9d-f8f906698bf6 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:278be3d0-838e-4b3a-afa8-c0445d5c37aa phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:b70d2fea-b2a7-4e2f-96cd-3751d7ffc910 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:609ff7e6-e7d1-4358-a8ad-2d2e01ba1871 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:aa64d3ab-7b96-465c-b80c-a7f593adcdce phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:f9c65cdc-f54f-4b65-9d4c-3748611075e0 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:94f4d02c-3d8f-4352-bb26-7a4a710d5c0c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c2ae3e01-f7c3-4bc9-95ff-55770c5f9fa2 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c496f7b3-436c-4a3e-84a2-1efcfd8e6290 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:bd2cdbc3-0224-447f-9ba8-9c89e0003723 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:5d209d39-5ac4-4a76-bf14-f556e72fde5c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:02389f83-02d7-46de-8c48-ff23991c85cd phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:e0b91038-37c9-4446-b65c-1b906403b59c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:1fb1426b-2d82-467d-9bbc-49079c61bc98 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:5210cf7c-e92e-4307-a617-94ba3f2e2fa5 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:33791923 uuid:66de68ef-d85f-4b47-98d5-5297e4cd1f93 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33791923 uuid:0436079e-b61f-4677-b3de-442001fde42a phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:c79b363f-9032-4e44-aca7-4f86a0c68c03 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:4c9082d3-08f8-4868-84ed-f1c15d4fc94b phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:d549ca8e-c859-44a5-8d96-a1ccdc97f28d phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0003108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:5d340382-f58d-488e-9d29-9f35e232079e phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:d36ae7ed-3b28-4ce5-b757-cc190bed74d4 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:1a724845-a941-4e13-8276-c2f24d0b90b4 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:369cba51-613c-4eb2-8096-01b42e8e4a4f phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:7a85db1e-58fd-4735-a887-611c5f4ed639 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0003108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:0d2b005c-ba5e-4c1c-8c02-c85debc4e704 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:ec41d55b-ffc5-4338-92f2-51fd3eef0b36 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:454407bb-7213-47b6-b522-07f818afff07 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:c790249e-f047-4cab-8a34-3f7054b43322 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:9600239 uuid:9742e5cb-a4d6-42ba-a01a-7c96a34fec68 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:fa4494c8-b1a9-42aa-9fa6-6c1de8940ae7 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:499c2030-96fa-4ccf-af59-0f9b20ce8ac7 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:6ada7fc6-e4d2-4a53-89d3-f714f7cfa78b phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:9600239 uuid:5dd8c1bc-9d65-4243-b8e6-826c7cf20356 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9600239 uuid:cc42ccea-0f07-4d18-9731-b5d25c815778 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a4f76d8d-02ee-4f9e-ad21-e07d04d58e82 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:25acf6f1-5948-418e-a08e-f49079f52b00 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:006f9b43-dad2-4c04-9205-f52fc8e20b32 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:58c74a56-505e-4b23-bb24-2f8f4bc1f78a phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:63ed1be6-cdb3-4679-b48a-bcee6476ca87 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:4867cde1-1464-45f3-a981-825199216d3d phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:6d5096cf-53c7-40c8-84fd-c0a22b7d3ccd phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a39b97e9-5218-48db-8c07-c6cda826a136 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:1ec211be-ac4a-4e43-bc90-2d210eb026c9 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:9707eb6b-47a0-4e4d-b922-0871d0853c12 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:4f079ca1-9a12-4b8b-9f1f-83754a43ac50 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:7c809b75-eb9b-4298-abb3-7a32f29383b2 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:eec97f86-124d-4a4c-9ab6-4339462b6e91 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:21b35488-2843-470c-8a49-3e8234fdb9da phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:d5ab1155-56b6-4efb-b760-287bcfc13b0e phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:7c6a45e1-bd7b-43d6-ba2a-b794353445c2 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:1eb4da29-1107-4220-8f79-bb1bc42f0adc phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:950756ce-4918-414d-9afa-f3f58a1d710b phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:33791923 uuid:732466b5-8b7f-4dc2-b57c-1a35fed6e272 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33791923 uuid:553630fc-ffc3-4490-a130-bb13fbbe5082 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:22150416 uuid:69d5a2a0-7aa1-4c5b-8e67-5e82c0fb0ac1 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:855f71c2-388c-479f-ae15-22fec4165a0b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:7504fcd8-4146-4cd3-9565-1d3911674b72 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:ccfd5ee8-82af-4022-9c48-18900a4c581a phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0004407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:5f071257-9d56-47d2-b092-1b0fb232f15e phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:245fd23b-02aa-4468-a491-62489f27e882 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0011225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:3a9a4fb2-d5e7-4a99-9304-337033cebccc phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:b537c34a-2b36-427c-af07-8a1aba4a60c3 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:284ef28a-4ce1-4beb-a411-c5cef8c5c078 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:6643e884-80cc-4074-8f16-3e9b6a9d519b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0011386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 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infores:phenopacket-store PMID:22150416 uuid:34837f85-90c4-4ea7-bd6d-c27ddcc53eec phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:68174edd-5b26-4da6-908b-2b37073f0440 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:4ed4e72b-6dc5-4921-bd58-29a8e58662d5 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:97459383-dd6b-42ef-ab32-67626b2e4e89 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store 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phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:22150416 uuid:6a76e70d-ca18-4f1e-9e18-31c1b8102305 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22150416 uuid:ad424415-e603-4f05-958a-57cb27fdf597 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20358596 uuid:5eba8199-8c11-48c6-8ef0-b57736c4593c phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0004407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:bce3564e-8e88-4eae-8fa6-2e58c8c7c2f7 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:ac9c07f0-7c8d-49f6-a032-aefef3ac3614 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:20358596 uuid:5b825be7-b0c6-4ff1-9301-7f3a64446b16 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:40574483-16bc-4ef8-9005-e1f11f581337 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:b0acced9-dc7d-45be-b698-502f896b31e6 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:99a17507-fe26-4fc8-b9c4-6c6410dba1ad phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:167f217b-8657-44a5-95f4-10b188fb5b17 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:12c55078-5f8c-4c90-837f-7a7a087dcb5c phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:73323b9b-c2b2-4c17-b30b-5040cb5656e1 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:4b68e29a-a48a-432a-b1f7-4b7c3b66dce6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36de3fba-dd23-4225-a51d-406c14e7a994 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:611627a0-a1f1-40c4-aa5b-ac6e271b4614 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2e158df-b0bf-4a68-b0f9-a3e6599663c1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91c3ae0e-64e7-41d8-9f7c-effed1359e6d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5f383918-01f6-4b9e-86e7-91a2a1507c15 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7fe2cbc1-a4e3-49d7-b4ef-90d82c6546e5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a21fb0b-602b-40f0-b71e-63a43923b9e5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0de2db4-e260-4c37-9eb9-9ad25a18785e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b188998-9b74-4c80-9adf-3071340da4fd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1cb3d47b-75dd-485c-b545-492899d00b84 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fc7c9480-dcc0-4c25-ab34-547848630b93 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fa06045a-db08-4f87-86d0-501180e182c9 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02cd5b36-2073-4de2-a95b-b88c9a5256a4 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eca804e3-4f62-4e26-a071-2f9cdc665672 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f357d886-7d05-4466-a1d9-52eaddc5985d phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7dc655a3-9873-4ae3-90c0-3be117a31c99 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7e0f2208-9d9d-46b3-8e88-38eb90751d26 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:30be782a-bdd1-46b2-bfdf-ef13847f0c93 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c4a1fb2-bc3d-4b3d-801d-336fea0ed293 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4b1ffd1-66f0-417c-9d61-b783892ddbb8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:628c849f-f583-4202-a03c-890156a6d3ab phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4fdc073-f03a-42ae-a03a-ccb1e4bb98b2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0b16e2c4-3993-4cd3-ad50-d27a90a8f411 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:261ba5f6-5ed9-4928-9ed5-f00d6ecfc7b7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b86ac56-3e63-4c93-92d5-433f38817a97 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:71c31bf5-a006-48b3-96f5-3fc2eca9fd6f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fcded99f-3b98-4ecc-ab8a-0cf58ff562b3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:301cc5dd-6e04-44ef-aa04-e51c3d366422 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2c0010f9-bb75-4392-a334-a44586c7a78c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9e38b6df-6b25-46e7-9971-8a017d721244 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2a5da3e-16ef-42dd-b97b-60f49048b399 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3eb3ae6-af28-4729-a93d-d87fb819cde1 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6707535c-d538-482c-aee7-b2f39ce58936 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe568d95-1854-4a1e-bbd1-e660c170d338 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f722801-19fe-4429-ae63-1947c2dcfa4d phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:649532da-974b-4246-b15e-be477ca2a849 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ad75658-d13e-4e92-851c-0fe522650ba8 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2f93659-bfa7-4e7d-9893-fb96678b4bd4 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9ffad757-6569-4f98-bcce-3082b8335636 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:361ad942-a21f-4ea5-8f75-59d09e1b8557 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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observation infores:phenopacket-store PMID:36446582 uuid:445947b7-ec3b-46de-bed3-96f361b4e930 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f27255d0-0d55-4a57-aa21-afc048f8fc2a phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b41bba4-0a9a-4fbe-b762-77b2c88c1693 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e3e714f-8935-4709-8307-644dcc819d0c phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 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observation True infores:phenopacket-store PMID:36446582 uuid:119d0f9a-c649-4fa7-b8bb-fc71a954f430 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a72b5185-1d82-4631-a681-6bac762a8dd4 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1625e85f-a94b-4a48-a806-ce67149d3953 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:add0c4a4-dc65-44e8-bafb-96d674c1b4ae phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8bdb112f-be3c-4432-a1d2-edaa4ad737a8 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54cd11fe-5e64-4a78-92d0-7f022a78448f phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:534bc824-d061-4c74-a3b3-3070db6287f7 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48f4dc80-44f0-4911-8c34-7f990239d0e7 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d5074c4-5926-4436-abea-81adb57e40ce phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6c18e6e3-f918-4638-b31b-e9ecb1f19129 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7a92fb6-ee81-4502-83c7-1e58a6571631 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d8d588b3-b412-48de-a4ea-6bbc3b1e6768 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000729 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observation True infores:phenopacket-store PMID:36446582 uuid:6130d3ed-3de4-4229-a7a8-fb2be1105e32 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:497ef239-8428-468b-be01-b83e2b7e3750 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72fa81a4-be89-4f60-9943-5b6a2271ad46 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:313c20bc-a074-408c-a957-1de5e29c0e7b phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d19ddd1-1545-4741-9449-2b26bf459917 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b12d3fd-9de8-435c-8df6-43638c47c3d5 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b7e6153-c351-406b-8ba8-ced1294528e0 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34334a9e-7448-4f50-aa2e-e20faeb567d6 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a728815-6a08-4b22-a4c5-e95359bfe252 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26fbbbf6-17ac-4d97-aac0-f4fb74129d31 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6105b9e1-5c7a-4a00-bc07-8fd832a48992 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6aaee3fa-cdb1-4f5b-8315-1d37eac4550e phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation 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infores:phenopacket-store PMID:36446582 uuid:8941a80e-6fde-46a1-94d2-84763325cdb9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8842a30d-1385-49a7-952e-c16b73045cc1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:559c6c81-f596-4ccb-aecf-23ed5f09a119 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b991dac0-5ad3-4cc6-874e-c1c26a9dbe89 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 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biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23fd127a-7318-414d-b4ed-7390524a755e phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:408a6da8-d818-4073-ad2f-90c729504cf0 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55810940-db5d-4084-868e-1ecff54d6d74 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1df61cf9-c9d0-4295-b808-5dbf39011edd phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation 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phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be103cbd-4cd4-4024-a833-34558e59eb8b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a545cad9-121f-4848-ac96-f86c321720bd phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3fc24edb-5a8c-41c2-a4e4-bc744dc6d1bd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a28dfffa-6cca-48fd-9207-7c613c7ba8a3 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phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a38ad0ea-a8e3-4557-ad64-46799576f79a phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a658b16-21c9-4e3d-8bff-4a6ef0961fcc phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18bace79-b8b0-4f96-9814-584cdd222995 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b878162f-b407-4681-abf0-491ce3bb17b4 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9f4aca0-0f15-4015-8e5c-cede412bf2ef phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f444dda5-ce4f-48f2-8291-05c1885d5d28 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9ec8ad41-a1ed-42ab-b25d-da91f8816e64 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4666ce4-66e4-4797-9ddc-cb47a2fdd36a phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:73bd6845-5eec-4309-bd51-00fd1dc52dc8 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:690785d2-08e9-4a10-81c3-11c54f2737b5 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02d36fb6-65be-46ab-8d7c-006ffd1af308 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:774c9dc1-b0ab-40db-a256-5e8a91c09305 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d315d7ec-59af-43e7-bd59-7f87cfe6c7c3 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5a2a8b84-1fa8-498d-a036-520d721ea7f4 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a63709f2-c633-462f-ab08-a79ee7123317 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8ff22a5e-c7b1-48a5-a544-810ff6c04b13 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ee6b2b26-5fe3-4ac2-8f60-58bca6d9b5ac phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81cd1cda-1b09-46a1-9c37-fc98fd54465f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2622b125-0de7-4fda-89c0-c4bbfff4953d phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0b1c4ba-33f7-447e-9b92-a9536f993c0f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba789b02-4505-4fa0-9c7b-578a90f2addc phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12571286-8a97-4f46-9c8a-871a9439cdf0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:35a4b743-92bf-40ae-951b-5cc7079a5b4e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f754fa28-e475-48b7-905a-f93ece4a3b0d phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1c6aeab-ec4c-48b4-96e5-eb343c465640 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b50f6195-41f9-4292-aa27-23dfd1074caa phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57b4cf75-9e3c-479f-a4d3-144cd954e4cb phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6aebeac-edf2-40ed-b237-ca10abfb9ecd phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59a091e4-9c35-40c9-9545-da5dbe58877b phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9dd1ebc0-4314-45a7-95fd-11f1e0032ca8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:26db2769-9111-4bad-a932-4f2de0fb1b41 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c32a74c-4fbf-4e7a-a6a7-e43c9ba22027 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90cbfcc5-b761-45a3-aac1-fe46cfb5a112 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:558272bf-8c08-46c0-b9f6-839565e85f07 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dac4a066-8981-41d6-8996-f70f4ecee588 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26c4f37b-de13-46f9-9595-9cdc2927c7e3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ac00138-f1fb-4bef-9710-539a5d285f05 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a39b50be-5349-4516-9210-e93f5c9f847d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac2c6c4d-dd3b-4cfa-8578-b2a07b9d42c6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6733d6be-f753-4708-9fc8-6a16cd5d315f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b5949115-52c4-490c-853e-66ad80547228 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6777ef04-d986-4bc6-95cf-535a12914977 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8693b94b-40f7-4784-90f1-9b393e476bd8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0eff0ed-9abc-430c-98ad-3f870cc9757b phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40d40273-2ce4-4e8b-81eb-c65e1d4d2436 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4971dc94-8fae-4eb2-b6b3-ab975b91677e phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:815be65c-f32e-4a96-a1ee-b999750ec293 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3874612-13bc-44b7-ae51-443413de0ed8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2cd8aac7-5ae6-4cd8-8907-bb33c2e5e2d6 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation 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phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c7ac4090-5532-41ee-aa4d-d93796ec9eb6 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4314ecff-5c91-4386-995c-dbd468a7c081 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d65d4b8b-8b20-494d-a868-583811c06040 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5e683f5-f29f-4b1a-bdc0-b1f5075693a8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ff82fce-fe6b-4df4-b129-eef768013b08 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b9fcdc5-7284-4cab-80a7-44895cc463a5 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17514e25-93fc-4b72-a6a8-25ce87684aff phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec832200-5447-41f1-a320-e309fda39733 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3eb7bbe9-c2b5-4382-b18b-2e1671cdb7bf phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4762023-659a-4151-9170-335705fad034 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4230f22-71be-4e5d-a25e-4b94698b42bd phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e6e6d9c-751c-4dea-8692-255c242d47f4 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:475b34b9-dabb-4d8a-a8cf-98b7ad704f85 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9d081c78-d996-4883-9b3e-5ace51dfb29b phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:98ea6af7-a8d1-4258-ad97-3c2a168f3a76 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf8cf1ce-2e80-4915-bbe6-f114c88d8417 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:506f4082-c5f2-417b-8e8e-d2db10a8ad75 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4db13d9-a89f-4046-bbd5-b90cd5d916f9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f25a5165-c736-4167-8090-633540d8f894 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27d23636-4e9f-458a-8505-a02904d6d62f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fe28cb6-4528-452d-bbd7-9222d83a3cd4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f2ab346-61a2-4e89-aae2-cfe10dcf0039 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:657e736d-63c2-466e-9672-cc448675d57f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96e745a2-2aea-4070-aa05-7c8c810e0b0a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:60e4102f-7f32-48de-aa02-ad100a8140f2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8bb0bff7-20a5-4e02-9747-adbbc854089a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25198e11-2477-4737-b434-e83b97041f4a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c66e4cc5-3469-49bb-a14e-4d7620d62f1c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e021a90-7fc3-452b-a6bf-96791ba1f6ce phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db8cc8cb-ba82-432b-8ae8-6b0f3f3548d6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4eece49c-a237-4ab5-ae4e-27450a23fdd3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89af8bdb-17bf-4da5-9198-4c75d8f019f3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5cc6b4f-56c5-4270-a7f4-4fa189cfd39e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d767a3e9-6b5f-400c-a461-f085946fe1ce phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee80453f-27eb-4199-b91c-c7cb8cc9c4fd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2bc91f0-4e7c-4f39-a59b-af2392b471a6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3385713b-7029-41d4-a149-e0c997564daf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7df6ac4a-e27e-4d0e-80e4-9ee18b556b7c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84bda631-a0d1-4e6c-9742-368421eed819 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8afec227-cd29-4e02-9ec4-ee84613c847e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f493ad2b-90ba-41f3-9379-179c8338efea phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1144335-be2c-4e12-b8fe-1e1fb50a1a9d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80db6b95-b88b-4cb9-b05f-7c83529eb0a3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:74643c7f-a424-452a-939f-08b044212b91 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eef84813-01ed-475c-873a-440307ec8a97 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08e08fa8-db1d-432a-915e-1e3a167833ff phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:924a1cbb-ce8d-4145-995c-07349f56f34a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c01cb5e8-e3c4-4129-ac1f-721332e396dd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72c16f91-5063-47ca-a864-524e7950d290 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d61057e-c297-4414-ae7a-fc174a7bc522 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e9926dfd-0f19-4808-87e4-3cf31e7a7d82 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f552ffe-5ec0-4461-92ce-d2b013ff7501 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2211c17-b60e-4c4d-ab2c-25ce76010c32 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57363c77-c9fc-475c-909e-bab55a68ee04 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:07652047-7a7f-47b3-8052-fd45ffaabf9e phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0a9fee5-4f14-46b9-b9ae-ee589a014bae phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2b12b41-240d-4a13-b8ba-c392b2ca4235 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e7eacfa-34eb-465b-acae-5753e515522d phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e28b4e7-aacd-4abd-83db-6573d0633486 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88cef2d3-cc38-4551-ae17-2aeee5d1735c phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4dd45262-ad67-4b16-8713-f975a79a2b48 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab3ea21e-83d1-4fb2-95e7-81464c8e0277 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6df6bbb9-ec31-4582-b935-ec8db1d40942 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad27c5db-0e3f-48eb-a7fe-943eed7c2262 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ed900c5-33c2-404f-b7ca-295f04970b68 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6efa74e1-923b-4665-8b78-918a28547643 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23448749-b6e9-4558-aa7a-ac43c1768e33 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ca3a5ea-7e31-4370-8b48-edd00af93c68 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c10bcac8-943c-4339-9017-dcddda1ec447 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:521a8770-ab64-4c9f-9a97-68b7d8a7ca86 phenopacket.store:ANKRD11.PMID_36446582_KBG11 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biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f2c4ca39-3747-4e3b-899b-17b6f9ede687 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cdfa9fa5-5421-4dd5-9126-5408e7dbbcb2 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e7e4a47-dfc4-4a6d-a5f6-c8593c8a7070 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28fb2bda-bc51-4286-b498-916ce8aa3f92 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbb1128f-71a6-4e11-80e3-a9af9d3d6945 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0b64bdb-64d1-4663-a761-abf087ca085a phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e56b811-121f-4e79-acb4-d980d06c631c phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7af1af27-a302-4301-b022-5ba152752796 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bbf21702-aaa3-4829-93b4-b0ccd4e915fd phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:026f858c-7e94-4dac-ae64-34517add23cd phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9303b569-dde3-4043-afd9-8ed6f763ae58 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9820e555-9d00-409a-9500-d5ce349d1aa4 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:28e4aa5b-72f9-445a-946b-8f43a2d5c8cf phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6145d71b-f502-42b0-9006-91ecae7f739b phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:293f01f6-2cbe-4e32-a849-3f93a5d21c35 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:828050c2-c8c6-4c6b-af2e-e97230914944 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002373 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HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16c6eebe-4b25-4c54-9e73-e8d46b5a063e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2aaae7e1-b1dd-4ff7-a382-82e3fc5fdeac phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5db0afbe-50bf-451e-9c45-a8eeec1afd1c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:52dff651-266a-4898-9ad6-e6e7dcb64e16 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_disease OMIM:148050 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phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c96cc05-0e18-4ca6-beb2-9add22468c05 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e157299-9ed9-4620-bdd3-9b8be2f272ab phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f93e8ebf-cba8-443c-b5be-c3befe5682e8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4af63eb-c8b9-4a0e-a806-6d04b36273b5 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73ac9bff-a55d-4409-b5fc-b7c748e36f3b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4bd7968-9555-4c05-91ca-0680c547385a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:69436bfb-81ff-4087-9d67-450c6218a766 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ac30554-ccf6-43eb-b683-df6738e0b23a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e9cf257-d845-4a7f-9f73-0231de603c5b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85ab0c4d-048d-4d78-9d29-1a6b14f8bff4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:36f2b983-1fe6-46d9-8de2-d8ed28f71cb2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1fc76d85-9e28-4a63-a6c0-c22154677e03 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4f26b8dc-56ae-46f7-91ce-2e2644b460cd phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d00d1afa-e5be-4d96-aaee-51237c6b6e2a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea7aebca-9f54-4d1d-83e3-f7ba8a50ef58 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:42087ce2-a77c-41ca-ac3a-dbbae0d6edb5 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd31e336-07ca-49cb-9959-9ece7c8ce2ce phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:366b34b2-6594-4f65-bc05-c321a0f2c417 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e950b230-e9d8-4e66-85d8-b37c28e427b1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e31f6107-d7c9-4ca1-9cea-596169d35e0a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b43d3b23-13b4-4355-bbfc-9a4b79042cd9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:df584098-5e22-482c-8d8b-aa03db6028c9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b36fe7f2-da53-4fcf-8b48-24c5c7cd8f88 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f12d4fc5-ad77-4c32-990f-609b228c3e2d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9909371-5971-4fbc-83e1-7cd53c3a30d2 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a4d8c4de-aa01-412c-9133-8b971434618c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40d9ed1a-0f94-4be6-bc82-f04eb3804628 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:98b782e0-6c5f-4594-9ca4-13553e0f6139 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 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HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c21a33f-4ee6-4127-aaf0-8fff80ce4f52 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d02b3f6-e4f5-4b04-80fa-ac637de09831 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed6b152e-ad81-4e3b-bb50-c09a4da5fab4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea322ce0-f259-4f4e-8888-086146e6c182 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001647 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observation True infores:phenopacket-store PMID:36446582 uuid:eea8f181-766f-4898-94ac-e9025e2a9462 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:abf45775-10bb-4076-a698-6eead3cec88d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a17dc47-efb8-4966-ad3c-fc8c83b40f8d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3f7a7b05-b113-45f0-a84f-3ea31f9a6776 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:db50f896-bd96-4f5a-abdd-207fdab07d16 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d0d62cd4-a49c-41f1-8fbc-b7d51ccbedfd phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c856ac71-cc74-4390-a32c-716ceb390c9b phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:853e13b7-932f-4a44-8bab-6a89c2381f3c phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb021469-370f-4f8f-99aa-340a43fba179 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fe8a6e8-7b8a-4e0d-84f7-60c03eb17f6d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:213a8fe1-df27-4f9e-8af7-6c7bb1485070 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cfc57f14-9a48-4226-8116-cc096d8ebd19 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b24c84c8-cf8c-4ec4-b98a-33bcdec83ac6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c73b2f80-e547-4d5f-a794-b59bac977f33 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f480337d-177b-4a49-8582-a74bd01bbaed phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ba85214-e948-4019-826c-25c5539b24c9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d228f52-e8fc-4545-90ac-c9ad2fc5e057 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a1bea11c-8321-4351-9129-5efab8a33ec9 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e10ea801-1762-4574-ad5b-2e6fac8ffe09 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03ec55c4-0399-4d4a-9601-0996d6b5da2d phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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uuid:830a6541-9a46-4999-846b-53fb200f1ca2 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6566e340-ad62-4f1b-b383-851e022d6499 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:68601fda-7267-4e44-9446-478606408de9 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a2a8721-a9d0-4361-b202-153d0171dadb phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a758642-9817-43fa-8fb3-947dec7a31e4 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phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85e95702-b848-46e9-b1fd-f6750707050f phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1de801f-7ce0-42d0-89ea-cba363ae0bba phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef4de48d-781b-4b37-8c4a-c7be2db63762 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c826f7c7-c6b9-4ad7-9ba6-5a3ac5874da0 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5183200d-b23a-45af-bc42-f22eefb525a5 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12a3452a-e7dd-4ff0-a006-8521ca7409b4 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8cb6ce19-e7d4-4ad1-9861-e1138b53161d phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be6eb408-2cf6-45d9-bf80-a4565777f27a phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation 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phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83d06fd5-006e-43e3-9890-9f6159b1d87c phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23565347-b6e4-4337-996e-1aa2a1fb7bc8 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a1501cf-5ab5-4fd2-af97-1d6789dba180 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3aab2504-adbc-4b86-a195-e4d8c53eb366 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b7df4b32-8c94-41b3-b90c-7d4943b97924 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35d55e6b-6cea-4828-8798-d7c7b8cc9557 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8d0c6d4-bf25-4093-a07e-f302d98fca54 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3882b81b-89e4-4f78-9f46-b1fed6675ea2 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000308 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observation True infores:phenopacket-store PMID:36446582 uuid:ed2c2fb0-350c-40cc-92b6-3c0e869f7e5a phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49be1d60-8c8d-42a5-81ca-28e01d35748f phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bdb89310-37ea-41ee-b412-fb7862077d42 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bef6763d-824f-40f6-8655-754982e3b397 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c38d81b-0d8d-4679-8948-0ad0c4f1685d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:907bc6a3-9f56-496d-a543-3953830822ab phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdbb8392-fefd-4af7-832f-18619c5c2942 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61485914-6e2e-4b59-a956-86ecc793a215 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c551b3a8-6655-4992-b6e3-d6cb71a73856 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7de8c6f-7cf2-4bf9-9d5f-e304c954068c phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9585d27-9fb3-4cb0-ab9e-f667a4f16cfd phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d13a4150-7f21-4695-9f76-7d9422915983 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000308 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observation True infores:phenopacket-store PMID:36446582 uuid:bf07ed85-8ac5-402d-a02c-7ff38ec110a8 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ed30243-9f0a-43f3-84e8-f574858d4bc0 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d8b2e7e0-79d8-406f-bc8e-d3653cc19b0d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5bacac37-abb7-4003-8241-2d7701ab163e phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c4c394d2-2843-4ecb-8780-10841f7a2412 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biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78c227ac-86eb-42f8-b307-fbbc8d87d999 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80a0d12e-6d01-45e6-b23a-61eedd7555e5 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39719222-aaa5-407b-a7fb-3494a14c2e54 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fdd1736-c885-4c1c-b0e0-4088a41ada0d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002353 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observation True infores:phenopacket-store PMID:36446582 uuid:5ab89539-75bf-4ad3-aa47-7b930b138ff5 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54b633ca-f6f7-4ec8-b159-0ced686a9540 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4bad604d-3a39-4247-90a1-04e68d697c72 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:166c7d24-2c7a-427f-acdf-fa055642f6b9 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e00cff0-b86f-42b6-924a-192f5da53d1d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee55d688-2067-4f8d-8c0e-a1df3502be38 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f65d76f6-2d64-4bcb-91a2-ec9991db0db6 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7fe5123a-52c5-498c-90ee-04068cc73803 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4c81a70a-a4ae-4064-ad4b-7e3487dbcbc9 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f1d4842e-3d3f-4fbd-a121-f3f3b1453403 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:148355b7-fd85-4360-888a-65838eeecc3d phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36df63c3-cd19-45e2-b546-edb2f73e1ed3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000729 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8868876-673a-4538-97ca-a20d4d64bd24 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee59da41-8fb9-46b5-b838-edf39cf68d88 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:631f891c-ba20-401d-9174-e6f33a37cfbb phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2938fe6e-af3f-47e7-a9d1-bf3d8a89ecda phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9aa85979-ed08-49c8-bd6f-ebcf04bbaeca phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:58055c1c-09f6-4862-9fde-d2fe5f22d2f2 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f8f878f9-4985-45c5-aa8f-6381b7e49943 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:21c790f7-f1b2-424f-a044-e4eabe3357f7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89262125-45d6-46de-a6c1-1c301e407441 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:14bad7e6-feee-4f14-9de6-d7edcfff0338 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc82de1a-5d07-4ae4-95b7-cbf455fbb10a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c399970-b4d9-42c7-94d5-2c3723b75fa3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:964f4728-1d2e-450c-8d91-fc0ded4223a3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5dbc4b88-df69-481f-a885-0c959d131998 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8edc47e5-80bc-4911-934c-16bc39a11918 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1483026-4d37-45d1-a436-dd7eef9acd26 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4b3866c-889e-4643-9f3d-f193a314e6d7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f6ea79a1-e346-4d54-835c-30c9b66434cd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a3be06a7-46cc-4e71-91dd-5df8824b2fe8 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a5b60e-717c-4690-bfb2-c628b7ae109e phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:80384106-ec5a-45cb-af01-df20369a5c78 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observation False infores:phenopacket-store PMID:36446582 uuid:804c8ee9-8480-41c5-9793-d88f6586be51 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aca4351c-091c-49c5-8d8b-c17640c6ca16 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae8f5d76-ad09-487a-816b-32b5a46ad9ab phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f0f9fdcc-b5f1-45ff-8948-9dcc9f3aa0b6 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb7ba0c7-f4e9-452d-8679-114a2872a454 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1340aae-c5ee-4c1f-b9d2-bd1a99fd9e60 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc1e5e13-672b-4ce3-a556-dfdbe224234d phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c6594bb-bf14-4a18-987c-5ff995c4257f phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd039c48-8e1d-4fec-9f44-6905fd2cbf1a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60ac0ff5-38b0-4592-bf91-4325d4837c22 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94d55387-adf5-4548-85ef-ae6f914dd87a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96582836-323c-4bd9-b1a5-45c8b206f381 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2071f2f2-cb78-4dab-acf8-fd469be79967 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3e03017-4ebe-43c4-a3a2-fda8d52a0f07 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c4b5cfe-25e5-4e01-af4b-34d8a721190c phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d78e225c-25e3-4d26-ba32-79b540e7a204 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8b98d1b-9af5-4c6c-b5de-2cc156fe4311 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a30d96da-2064-499a-bce8-f8e5a8909ccf phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb408c0e-cb75-4448-aacb-7de96527bb0d phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ca62577-d6de-46e8-bebd-9cdd90da6cd1 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:34ee6083-663b-4455-b792-b548220979ba phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c893486d-55bc-42d9-b51a-2a472dcd2d36 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0fa717a8-613b-4b44-948b-387f49dec11d phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b45c63d9-af8c-4286-87c0-2200294f7ddb phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:377a8136-3872-485b-b7e0-5a71ecb92fb8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb7fe5a7-932e-4d09-af2f-3561bfdce910 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:170c7fef-a73d-4346-b53a-7bef3fe4e4f2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f7ee4c4f-66ee-48c1-bba2-e28af06c4bf3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09e39a8e-fd55-44c0-8ebf-e1f5ba5c033d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7bee238c-296b-41cb-a8dd-aafb5bae5c91 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90685edd-f59d-42fe-a672-0d0e24d69304 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b75143a-0e85-4b1d-8eaa-beca73027cd8 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phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:048d09c6-66b0-498a-900a-01b6e7c09c53 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e644ab84-89a1-4986-8201-f6b0b8e7be07 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccca9168-9499-4309-b566-cdbefcc28d01 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:832bc03e-3d24-4432-80b8-98d9c880cacb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aaceb9f9-e186-472a-a4d3-28d22f0fe197 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0ad4040-76ac-4d05-96c4-ac88a05d4abd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d93b5c3-a8a9-4968-914d-c1a07d2ddc39 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18fce52f-e55e-4bd6-b9ad-ce35ee9fa0a7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0cd6259c-b887-47ca-8b0c-804c8a50eae6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bc612330-2924-4fa0-a835-b55faffe0c24 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d2d23e6-92f1-4e41-b5fb-517d701a49cc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:affc8993-d7a9-4374-9f8b-3679f5d2e957 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6180cbdf-e4d0-4f6a-a971-ad008fb27d00 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0ed282e5-442a-4319-8749-23226e2e4d84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0ffbf5c3-ff21-43c6-96e4-03b864bcec6d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b40f5058-67b3-44e7-a94a-d608a1b23620 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93895025-c257-4772-84a0-9057e550a8b0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9941994e-4eb2-4a94-8e80-ac9678204d4f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c545e539-08a9-4707-8ff8-f42896926255 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:777585c6-d4df-457c-b58c-1284cb05494e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 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HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f15d4c64-743a-422e-a300-b89734ea998f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:718fa14b-42b6-4500-a182-59301443f47f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:174d5f70-a89a-431c-a130-6d67e8ae4425 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:36bca186-8271-4d30-be0f-d07215df68e8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001647 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d8551df-83d5-44ce-96bb-23994631b7d8 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:13cba14f-3015-4e48-ba24-99f3832614c0 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:99c2810b-308e-4c6a-aa21-018c8700a6c5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f34e486-133a-4717-8ef8-13c86aad09bd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c43f4d2-1b28-4e1c-b807-10141a356548 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e39ae1a-53db-48be-8c24-dd9dcabbcd4e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a16f614-b81d-4028-8b7f-bb93e1828a26 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdef40e8-cf88-429a-9ecc-731d815f9a0e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True 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PMID:36446582 uuid:f63ec5bc-2526-4a3f-aec2-bed4094b90e6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:705c68ec-a76a-4907-8d0b-3c39fda55ba4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:705498a0-0277-497d-aa57-52a90ac8eed1 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a71c84bc-3c37-4b34-9ffa-55976317f0ae phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 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infores:phenopacket-store PMID:36446582 uuid:8f285bb9-4f52-4250-8f6e-be01181766bc phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9197e580-0b32-40c2-8b3b-052e32048ce6 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4384a474-daa3-4ad7-b684-5f7c561e152b phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6da283a5-b695-4eeb-ba3e-1cf501e840b5 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store 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HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8cd61ee-c848-463c-b7f3-b399a098d6c8 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:088542c4-7ec6-4d84-808b-3bc1feb56436 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d741abcc-ab4b-44a6-87a7-872523513182 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8394a1a3-7523-4856-b566-e6f30f30747b phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:16d0af16-bbde-4ed3-99ec-afb21686f50b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa8e3444-fea1-47fe-b2d6-b565197ce471 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9bd9d7e3-18e1-495b-b254-0a09a216c668 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5e2d0c11-7af3-4502-b589-6a198f2538b8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0002750 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phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a49a1554-7d99-4890-97d5-358e0a5f85ea phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:48159732-bfc9-46a2-8918-f6da02111ba1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a50de193-19ec-4a22-8def-844e52d82d4d phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a53a03a6-fcde-4b42-b40a-2c158e5b9a49 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d081c585-76a2-4225-8f93-5d99c7f2bcf0 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efef08c4-374d-49d6-a291-64b5064d9911 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7606bfe-a745-47c2-b184-8be4a3b0b0ee phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d313bbea-84d6-48d6-989d-d1c46cf84949 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a36278d-7615-4395-adcc-3e95201a35db phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a472707-4309-48cb-a78c-83c2d41c86dd phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6bfd254e-28c6-4906-873e-7b67ffa5ff95 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:997077ea-851d-4977-85d4-66ea639af89d phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store 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phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddd3d3bd-af1b-47e1-bb76-73db1af2f551 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0b39542-90ba-4f3b-9249-86b0d2893dc0 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6505990-9f5c-4a94-bd29-37e8f273e8ae phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e3761f4f-33f1-45cd-869d-2393479811c4 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f970d3b-4978-4a22-afa9-d7e9232e4711 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a78210c-584e-4f87-80b9-86b31170e8a5 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bc19f97-2031-4727-a08e-a24f9fbc469e phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f0f7bdb-9491-4abb-b14c-9588a5327a9e phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e4d3417-69a5-40bf-a73c-caf2c3da5b73 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:201c1051-c8b1-4e81-af64-88065328ffee phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:631a5a29-c199-4000-bf8c-1aba4dad7165 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4426e7f2-d00c-476b-90ca-08321b6ddd47 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af29be19-acb1-438a-a51a-990c23c729ae phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e1ce01a-b376-45b3-8f05-22657a9582a2 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92117ec3-027a-4013-9aca-dc59b1481235 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:208c7ebd-b1aa-4890-be60-484a61304725 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4cd4ba4e-570e-4c7f-81f3-4f6f1a8ed2ab phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09a7e886-7975-40c3-9b29-14fe2b0714dd phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd080559-d46e-46fc-822b-4870e68af130 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:65ae9d12-b53b-4514-bd83-0f51925f33ce phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4133d083-c8ef-4f61-82ef-a5d1c3749985 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:24a1991e-f111-4353-92c5-09b75f6d9443 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64a1d0d7-e9fb-4154-a3b1-7adc7e8ce4ee phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f2e46ab-fc56-439b-9f35-ff2246c21992 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation 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phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:00d0c9a4-54fb-4a02-908a-22d95067b55b phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:98a7cd81-5b1b-4e73-807a-7e66bb0edbea phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:884c304f-9cf1-40da-822a-bdc03bb62d0a phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c301720-542e-4dcc-92ee-d00c094e3301 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba82e320-13a4-48b9-b200-05eacd65544e phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86df6f1f-6d8f-4ec7-a117-2116645667fa phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3219cf2b-955b-4bfd-97b9-cc759ab5a5b4 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d31d5a5c-aae1-419e-90b9-e4364c004026 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000303 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observation True infores:phenopacket-store PMID:36446582 uuid:11f77c8b-81f2-4f6f-be2a-66ec9e4e4439 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77dd7afd-bdc4-4b56-889c-5a6235f29540 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eacdae80-44fa-4544-9457-cee851f5745d phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f036376-1e65-4cfa-897d-af48382f5b89 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eaec5dd9-747f-481e-87d2-5ef94025d044 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2ffc6ddc-8bb5-41b8-ad82-73378d9512a3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e7744571-0d30-4aa3-a6e8-fada95d8c377 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efa36bb0-8a1b-480a-869a-5e1619f8ec60 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cfd04fa5-c642-4e6d-9bba-0c53392e66db phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e7252ddc-f25a-4a84-872b-5cee02f7fbc0 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7583609d-abea-427c-a7a1-d2b77f054be1 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d47c35f4-aa39-4ae0-b4b3-f5b96cae757a phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation 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observation True infores:phenopacket-store PMID:36446582 uuid:1fff0f40-77f7-4f17-aa0c-77356852bd03 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ed63ca0-7634-4945-a42c-8402143ac08e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:363ae1b8-b84b-4d3c-bd78-022567d0fea0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:20dba11b-dc37-4b35-9e66-3b58e04acc0f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:88c65476-d280-4eab-9ea6-cbc48911f679 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:731f6c67-dcf8-45f9-a576-1dcd10244e38 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0419f2d-e532-4c2d-b6b8-4092d403dfcf phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87f25d14-360a-44be-a00a-127c3247da5b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 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biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:adf5abf0-7382-4bcd-8669-7cac2ee41a88 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ac79861-9315-4319-973e-7ca6f353c8de phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a3c360e-f518-40d1-bf32-918fee284498 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5dc71bc3-53b0-4851-988e-260cfea7ea9b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000316 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observation True infores:phenopacket-store PMID:36446582 uuid:e4d42894-1b65-42a3-9829-a72a95b72d9e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d0f4c53-615c-43d8-86f6-b32b2569ad19 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c467c6a4-122b-4d06-b984-1c7ac806a105 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35b5cad6-c4de-49d3-b2c9-a8ba443aa90a phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3bf2e1da-4d45-4401-aee2-5ad863c50b45 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84db60aa-23fb-48f6-8dc0-626a8294ae6b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b8521ff-eb44-468e-9593-de79fdc80799 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1a1a86a-f87c-4ed8-80f4-3c80e7d40bd6 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:de36f526-b72a-4fe4-a021-cacf8cd54639 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb38e4b6-ba68-4cb0-bc20-487b368efc72 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f1eb387-09b8-4cd0-aba6-6bc0b4e1f6a0 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b26136ac-1877-43bf-8462-80bd8fdfbde5 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01ea3fd3-7836-42dd-b3d2-222b86f05c21 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b061b72-aab6-4bc9-a745-6a8a6abb3d95 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c2af3b8d-fb57-40f3-99f7-764a7e8d53b1 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:42968a61-0823-442c-8ff1-b58e4e23fb0e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9131c410-10e8-47de-b58e-c83f4c0f3863 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:312607cf-ea89-4ee5-ae25-722e26f372c0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aefeb817-50b7-4bff-af65-f35ff660639d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60fe9e61-7447-4b65-b7b3-012b90e6d28b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 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phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee22b6d4-8d09-4470-b69f-7a66fa800395 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43de46d7-9068-4edb-9ac5-089d6cd85c4f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7ea956a-e6fd-4181-8c0f-00b19ff71c4e phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2bd2171b-3149-44fd-8f4c-ebab4cf7275a phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0de3d9a-15c5-4bf1-b059-8e7b828521cc phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6070b3e5-198d-4850-abfd-10dcd6d0d6be phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78bebaca-5b11-4302-9261-5df1dd06cfa9 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:394b1841-6b22-4674-aff4-ef4373f4e1e0 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001270 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observation True infores:phenopacket-store PMID:36446582 uuid:4796ab0f-3efc-4bf5-acbb-1ea4812f031f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:234a36fc-a8be-4edf-b7a5-0e5e52adff25 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e296608d-7ff3-4725-bce8-cb486ff02fdf phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f994cd7-9bcc-4aba-ae60-766f878aa05f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 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observation False infores:phenopacket-store PMID:36446582 uuid:a3e62b97-5179-49f7-a3da-634116f6f5d0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4e88a21-f414-4488-a164-e11cc5a9756c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c815d619-92a2-4f35-a799-e71e4bed98e6 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6d36a2fe-7a06-451f-8d1b-4595a9344b6f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:43b0ecf3-371f-4dc5-b1b4-654529d96f84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8831aa64-117b-4d1a-a31b-90fc4a210f1e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f0f626a6-c83d-47f6-8430-56bad4f17bbd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe6edb08-08ff-487f-824c-39eed9c36caf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d0c4cbe-f0db-4b98-beb5-111abd3459e0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9975289b-b442-48ab-899a-4e24267c38ad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0a9d88b-66ef-45a3-92f7-085e0beb07e7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9fab43ac-ca3b-44a5-8540-c1cd728959e5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:706dda01-c6d5-4c6d-b1ac-59a05fa094f1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47941470-e85f-46e0-9cec-3d112a829cea phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aadea434-dcd2-4b2b-a741-febfab9a0dd9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4c4f093-6208-4d8d-818a-18f0a29e0c08 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d29f948-64a5-4e4b-8f68-968a7da037a5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1903724f-1fa9-4940-b38f-7137eb5d5b48 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d96504f-e9ff-45eb-b34c-f1e778981e70 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:139abf7a-4a05-4c9d-bfff-aeb84833401e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d5488a89-d18f-4ff6-ad9d-102c0489abde phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b7a48bf-9872-4650-996b-7c86bfcd7d2a phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b634fe4-2b90-438b-8a68-e46d5edbcae3 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47819ca3-0638-4e75-aacc-dd20b4b28915 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype 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phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:7e00337e-296b-45e0-bd2c-fbae32be144a phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0030939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:17484fa9-f52e-4e6a-a9d3-619b14e748fe phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:aad22d3c-8c89-492b-b90c-5e2e7c3e427c phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:5d97bb92-c633-4905-a53a-2fdccb43c664 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 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HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:da3ee042-1e92-4f36-b3bc-da916ef704e8 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:fa4c5653-ca5b-4fd9-a38d-978af211ba77 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:7b47c250-44d3-4699-be87-021d2724facf phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:7493166 uuid:4db51783-2694-42dc-b1f0-269a71e31d0d phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493166 uuid:f92b9299-5fdb-4de3-9da3-3112dcb70cf9 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493166 uuid:9d3cedbd-603c-4392-999d-6dc902c07aec phenopacket.store:APOA1.PMID_7493166_proband biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:7493166 uuid:cea6a911-2689-4f16-ac6d-95447acac2d6 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7493166 uuid:db077ded-861c-453c-b2d7-df6080820275 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:10487826 uuid:d7688d6e-e3ce-4082-919d-38e39e8ac2be phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:10487826 uuid:fa2bf14a-6d60-469b-a278-d8fc89160c44 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0011034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:c4f53603-4ebf-4b0b-9795-aa1132fc34f1 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0031799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:b990c598-676b-42b0-936f-30c8afbe1f98 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:5b4ba828-e6d2-4f2d-95cc-082510b6e7cf phenopacket.store:APOA1.PMID_10487826_proband biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:10487826 uuid:9ecd23c6-4c80-4c2e-8d2c-a042e66df43d phenopacket.store:APOA1.PMID_10487826_proband biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10487826 uuid:34550ea3-48d0-4134-ab32-b602f6a2d8b6 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:10198255 uuid:62467281-48a4-49b1-ac8a-9893572f9736 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:10198255 uuid:9acefb7d-4c1b-45ed-8980-0e86220dbf60 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:10198255 uuid:d5ba783a-3abd-4734-a576-215e6be87e6b phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10198255 uuid:08f5bf3f-0a25-432f-b14e-21fc8eefcf10 phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:12050338 uuid:ba56a1dd-f01c-4fc2-92da-32d962b02bea phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0001609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12050338 uuid:4d1ed9f5-18ef-40c4-aeb9-e08513c22fbe phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0000789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12050338 uuid:fe64bd5e-94fd-49c6-8ea9-b194313ef7c0 phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:12050338 uuid:13b84218-50f7-41b2-9257-3a942eb9652d phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12050338 uuid:4ceeb228-4224-40f7-b530-927830453c36 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:3142462 uuid:b5d9ff95-e3f0-46cf-85a4-b0140238bb86 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:9814855e-1419-4a56-ab2d-b6a718b4ed65 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:16b77b25-e50a-4e46-bcdc-7dce4512b261 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:1979e0da-bb62-4d07-8d26-1c54bbd8cc6a phenopacket.store:APOA1.PMID_3142462_nan biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:3142462 uuid:8c6eef52-57d6-4200-a364-506650ac0712 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:3142462 uuid:72fa2359-0321-4847-8327-a614fb29a3ba phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:9916936 uuid:8af371f6-42b5-44d2-ae2f-288d0cb78a75 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:9916936 uuid:72a1c39b-c10b-4f93-b42b-3a792dedec94 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:9916936 uuid:ee019822-9e24-4aa0-8db9-43b22f57c2b2 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:21362885-0781-4662-a905-335f8a63faa4 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:0cdc7449-8bf0-4d78-a8cb-85baf2f98d35 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:9916936 uuid:0c6a6f74-d269-4746-abd2-bf7a416f95b0 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:030935a4-24d6-426a-8ffd-ea4fd8f38c40 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:a1c9fc71-16a4-46e0-8889-eb5e3a7cf484 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:c686f224-7f13-410a-b1f6-83c4e0df5ea2 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:236581bf-b744-4fd1-8535-4d0d38422079 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:10198255 uuid:f638b882-7463-4d63-af2a-3177c77d74de phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0003216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10198255 uuid:0283c827-5133-4686-bc1b-bfa799d91acb phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:10198255 uuid:0292c8b6-e31c-4479-b600-2a901d6c4126 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10198255 uuid:2d00e5f0-2675-45c0-87bb-f3eea2e604a3 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:9916936 uuid:1612d110-8bea-46ea-aeda-d2d1aa3ecc64 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0010637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:9916936 uuid:ae237d5d-6c98-4512-bdcf-5e40c1d8790b phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:029a4b51-faa7-496d-a0a8-a44ab7ac98ac phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:8898c461-ca0c-4ae9-8e0a-cb19e92b2843 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:9916936 uuid:42ad5480-7c0e-4221-abd2-e88a85d7b168 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:02d7bfd6-36cc-47ee-a843-007b52840ee8 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:e3a635f3-3f59-4dbb-b53b-b1eb4f66d138 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:34bb5f76-7e99-4a4f-a077-deb06287b161 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:923afd2d-3852-4f2a-a0e3-05ce98bbe76f phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:9916936 uuid:b13c3a27-f872-4132-96b9-547cc9a0e355 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:7b7fe7e4-9777-47fc-9a24-b4e04de4ee2b phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:9c76a147-899a-4560-a140-a192eff78e4d phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:52e7e3b0-b6ab-416f-bd1c-8acafdc118b4 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:70a9dfb5-03f8-4029-976b-b9ce1e248c5e phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:415c39ee-3533-4740-b3a2-e3eeb7d5edef phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:feff5142-726e-4912-befc-44d7769e8637 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:706a92c4-6ffc-4206-84af-c0ec2ed485a8 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:98816d3a-8d83-4c9b-9eb2-53d031eb9089 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:8b3f6dde-faa8-4e61-aa9b-524da0365ce1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:2ff85c13-ae1f-4e4f-9c10-39e9e5fb964d phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:dd6042df-c8e1-47b2-b6ba-7e922859a38b phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:9875ec1c-2144-4696-a54f-b01c6478b619 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:48b9c3d2-9fba-4279-8831-189911600fc5 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:1787ec93-4089-4807-9b3a-4a37cc25b360 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:f8c67626-12c6-4bc9-8993-df2a5a98ea9e phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:ce88cf6d-7988-4cb4-9127-31b23b1e8f9f phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:ae7ccdfc-f1c3-4973-b906-2b6ee4bac179 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:3977a6b2-ebdd-48bf-966e-5ded981a7d2b phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:460a8e47-5c44-4b7c-97b6-786034977a4f phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:583f16f0-1d0f-433d-b1eb-6160d42db382 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:716c395a-c134-4743-b8ae-c7eb0407c6a1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:c1aef79a-f3a4-4687-a9af-b217c5f23e0d phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:d94bbc80-926e-4159-ba1b-f0daad35704c phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:bd23c997-e736-4c19-8640-00ace3a217a1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:198ccd48-952e-4d37-a4d6-1b3e862d6aaa phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:d2332cac-9148-44f0-96cb-b82db91ec259 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phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:73edada3-02b7-4db8-b839-868a6069d29c phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:7f5bb309-6a88-4b87-89ec-804261831d39 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:6453654a-37a3-4bee-ac9f-83e6c50ddd45 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:74791a84-e58c-4147-83b2-92d082ddd250 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0000605 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phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9ad44369-98c1-46b6-82d1-ea75b773f071 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:4900e037-81f2-4113-8666-9eadabda4055 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:fa1d3000-c53b-43d9-95ad-2ee9782a3c64 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:9c862ee0-0776-41f8-b3df-44b8c24b3db9 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:cd5457e1-50a2-4437-b3dc-24c7054f5f44 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:1a858719-0705-4c6a-a252-b4d7e184a4fe phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e3df6415-5458-46f6-9690-e7b69b521298 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e7cc6d08-4b5b-427e-a324-ae8261beaf0d phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:df05e04b-fb2e-4e2f-aa1e-2ce8e34c8774 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:502c2b1a-77a4-4231-ae70-32c745f8b326 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:032556f8-4d20-49dc-ba6f-7a0ca9839e4c phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:bd58800a-dc1c-4c2c-88e1-6d24de9d4625 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation 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phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4fa4e5c9-f27b-49fc-b43c-b9ccb36be605 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:3db5cf7a-6d5a-4fdc-b6c2-16049eb87cb0 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:aa821aee-2077-4421-bcf3-94e525d02a7c phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:a8ebef5e-aa78-4875-a230-e5d24c16514f phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_gene HGNC:20730 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biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d3d43f91-ba78-4866-ab9a-16f42718b9c0 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a64c071d-0463-45c6-99b1-4b48084f08a3 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:85aee183-98cc-4260-b533-4d93bd9c8890 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:512db3a9-05af-47e7-bbe7-7d0bd2904004 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation 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uuid:9aff4c6a-65ca-4e75-b11a-e40ae9b5cd8a phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:48c5a69f-7f9d-49c8-a520-470eaa487f50 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:edffe924-c7e3-4059-8984-7457766a023f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:6e889691-0d08-432b-922a-b4482d82dbd2 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:787fd874-e4c6-4738-be00-0765b7b7ccb7 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:44b4bffa-115f-40da-a50d-c0abd3fa2166 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:a936eb33-04a8-4a0d-80ae-606bbb210b51 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b5adcd03-c069-47a6-bf43-eb75b47411d3 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d3da227e-cace-463c-a092-395b503cfc53 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:252e83c7-3c31-4406-828d-c25d2422afc1 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8cae8fcb-aedf-4d52-850a-e35980f5ad1f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0025419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:e120014f-3af1-44b4-9f16-e50bdb652f8b phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:be6a43d8-e07e-4178-869f-81789cb53f34 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:89fb1f2d-921f-415d-ab80-6fdcd93f015c phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:54952d42-0037-414c-ba9d-9566aa13e1d5 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:b08d9ebe-43a6-4edc-bc80-e6047a9b340e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:a289eecc-1d4f-4718-9093-2d3e5b5c8a8e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:0d8c98e7-4204-4ab9-86dc-be1874ba9e1f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:b85862de-5d4b-48b7-8302-32f244734699 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:7af98226-5683-44b5-8619-1e8361c232ff phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:3f257606-9d67-453d-9a5d-553c3457e4a3 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:70890f79-b782-4ca2-8037-12722aea521e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:ce1099ca-2957-4193-b7e3-5f643acbd313 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0006517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:e4607675-3e69-48b6-8553-26801f94854f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:1fc41227-8b3b-45f2-a094-4d9c7200c1c9 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:276fd36a-e98e-491b-b184-3f68f6c4ec1d phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:c5e134ea-c657-4b10-9222-31bc8b9d1acc phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6220f584-50be-4945-ab85-ba1b9ad9a43c phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_disease OMIM:620565 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:70f671eb-acd3-4e05-b225-fc39f7dd7781 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_gene HGNC:708 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:3127bb9f-deb4-482c-914a-58381c474788 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:94e2c4e2-3cd5-492f-b25b-5a8c248b02d7 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:1a3993be-fa1b-4793-ab01-81415fe3dbb4 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:de9c0889-7f9a-4a45-8e66-7856048912d6 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:a0068ea5-807a-4424-abd0-620e873f1efa phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b5e31e6d-3c81-491d-938e-9965b842e4f5 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:1ffece4d-8642-4cb5-a9db-f6d46d6c1da2 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:cfeac9e1-517c-4181-890b-6fa4448e2bd1 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:16521589-7a26-4f44-92ec-a056743ff4ac phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8a884538-f95f-4c2b-9a7c-54a7cfaa046b phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:ec8f3f4c-45cc-4ebf-9002-8c0eefa41297 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:6d988611-95d1-4bfd-9b75-5f6b2cacceaa phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:2ae04d5d-dac4-4cdc-9a1a-73af416e3ad9 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8c2cb751-79d1-4a60-8f52-6f4547c28d6f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d87ce581-089f-4403-84ee-e3acd4a742d8 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:bbdd2011-1d42-4083-bdf0-fa250166fcfc phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:19df9a7d-49b0-4a48-861f-fe735c6c5d92 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:294cd5b9-0318-4f06-b5d2-013d8b3bd939 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0006517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:11e604dd-5321-4a28-a0ae-21561a094444 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b12d954e-e3ff-4fc6-b720-0d8d1f10c2f2 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:3d779a4b-c546-42fa-a488-d19b7e69c9c9 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:679e9968-7f27-46d5-a1f6-b5222a98a427 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:9900c28d-2b4e-4440-b14d-6f04c17b7384 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b2bcb231-a79c-4e8c-aef2-8287e514e67f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:cadfc01c-6384-4e6d-b990-746820cffd36 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:e5847824-1641-490d-b1cc-b02310218a09 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b3091946-0778-4299-a214-5a958dd4993f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0025419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:0ca90994-cded-4906-9935-dd65cd3c8998 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d57c1045-fe8e-4ec4-ac86-983d133f1895 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:7831f2a2-9444-464a-a061-c11d3ac46433 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:1d38db48-30e6-4a91-ba1f-e6a4d765729a phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6f2984c7-2da6-4e0b-aff7-4ba35b99b7a8 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6f489c38-3fb4-410b-a3e5-a10b1485af91 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_disease OMIM:620565 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:a5e3adf9-2e43-42ec-ba5a-16323b88d4dc phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_gene HGNC:708 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:6d0beec0-d3fb-46f8-bf23-12d3dfec3360 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:03ce9acb-ce5e-404c-b199-fc25958b7438 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:e8a5993c-4896-4de6-81c9-2885e64391ed phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:fe2a9a6e-af10-49c4-a431-602c24c57d51 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:2b1cb6cf-0fe4-43da-adc8-d5f1c5acef8f phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:1cdef049-211b-4243-859f-1231f65a06ca phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0012473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:e0bd2d12-efd0-4698-84db-12fcc5756ccf phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:7e2c6e86-2f36-4a0d-9e9b-a20ba0b84a85 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:31213928 uuid:bff82d91-64b8-4a4d-919a-b4520c946459 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31213928 uuid:92825571-0a03-4872-a31b-7b85c036bb08 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:31213928 uuid:09fc4512-aef9-4c71-b636-f957c19c982c phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:31213928 uuid:c80eb996-0e9c-48a6-898d-e5b4c5f12067 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0045040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31213928 uuid:d91e6d69-e3de-497e-97b8-8dbc2810d128 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31213928 uuid:55221ab7-695a-46ce-a5e7-f089d6ada0d0 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_disease OMIM:159950 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:31213928 uuid:bd51c5d7-85ea-4258-afa5-9223e18038bc phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_gene HGNC:735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31213928 uuid:45fb1105-7cf9-4779-8311-5546f0bfc71e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:ecf22eae-9f1c-4ce2-a3c0-460737c72671 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a673e1cb-ff45-4b36-bde2-6d8ec9c01595 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:37dfde18-0e18-479e-8b9b-7d4cd1dc9f5b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:f5946cd5-6c0d-4da6-be2b-06764bf1389f phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b41f847d-6140-49d5-879f-3b05ce9558b0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e27663ec-d3ea-44fe-90cb-fa62195526d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7ff46ff8-3174-4e4d-9e31-73efbf0052c2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d7dc7d59-abcc-44e3-ae63-1aed00a46c4f phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c6655991-86f9-419d-bbf2-6c581f5d3378 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:df403475-b96e-4f33-b98c-4d5b230c4eee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a8084265-42a2-415b-8867-3e8708800483 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:29e43616-bee3-4cc2-b666-cdb953772d37 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3d88241a-aca7-4694-b4e6-d4715508a1eb phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4943aece-3a8c-4c34-951a-31d2977e1641 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:36fe701b-f1f6-4fef-9523-4b28f4a87ac3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cb62f973-e5c4-4fe9-a01d-7fd759b2da6e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff265ea5-0339-4aec-b533-d4b2a63e505e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b4b618b5-39e9-4be8-9919-5c15d67154f7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ddf8bcd8-0ded-4446-af84-6ebf04c9c79a phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:373f0667-1769-4240-af30-5a5ab8c5b5cf phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7705d06b-fead-42c8-baca-675ad24bc432 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:279c7ce7-d876-4877-a501-b63c0fb0e1c9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1c440b06-ee13-4d5e-9a11-ff8078d90d71 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cd1dccc0-a4ca-4e13-ad68-d59a828748c3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e76db80d-5e75-4370-9446-5e6085e019a3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:64871033-bf03-465b-a877-456b3054b9e2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:65f10ea0-6429-491a-ac95-45a29481ea49 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:774e8375-cb18-4167-bbb3-c57ec46f64ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5b2a3421-d09c-4e22-addb-474a666b2d7b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6d618772-94f2-4b43-ab5d-514453bbc3ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:740b6a7b-5eb2-4dd2-902e-b55f8537c19d phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4751a505-3678-4c71-81ad-bb063cd4511e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:13983414-78e3-47c3-85ee-8132436eeaa2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0e68d5f7-dc27-4136-ad3c-57c548787188 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:13ea5f50-de30-490b-8e34-593e5705550b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0dc5bce-c286-40eb-8c25-b00efa8cc8ef phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:60c57032-1658-4157-a74e-5fcae9f72deb phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1388d392-f065-437e-b852-94f9fb07244b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dfdb9420-ef57-4d8a-947b-4a1279137171 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:123e9eb7-8dac-4dbd-8c1c-2bc50cdc6a26 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:439f8a84-6acc-43d9-b232-662ba4f13992 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd97c2ba-3aa9-40df-b550-8e46bb6240dd phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ade8b56e-0c17-4651-bce8-cbeffa0d07dd phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2d7a0701-bfa0-44b0-ba3a-f614f2d17f60 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0045bce-742f-47ea-a60b-ec0be2d81c54 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c377c438-7fe5-4ea1-b9f1-7d5fc38ed3d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a77b243f-1d28-4c77-88a1-d74c3d652089 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd00e7f2-49f6-4da7-ace2-6911cfeb353c phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4ca072ba-540f-4ce9-a819-6573ea16f68c phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4cda3b6e-26ef-4a52-98fe-a59407add213 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:77584e28-9a3f-4e12-8376-d7b26615479f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a25d3819-7cc2-4191-875b-e9c5a5a164c4 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e92760bb-faf5-4d28-8c5d-1eb5543ec511 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7fa4a37c-d960-482e-9ebd-571f5215bb5f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:05a0dfa1-681f-466d-bd93-6b2dc3d3a38f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f89cfe3d-a2ae-4e7d-a0bc-c11ccf49bf67 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:30ae6427-0fa2-4050-8d7c-88a194ce69bb phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de1bb226-009a-40ab-aa73-807814382dbd phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c4eb9161-0420-4fd7-8e96-fe7534a7ea66 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:14e98722-9600-460c-9993-dad6828d8d42 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4754993c-ca5a-41e4-8487-eb2845767eac phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:da0b7452-22d2-494c-8f81-d90e212e7a8d phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:715a2844-b716-4e80-8d70-06d8dd42fffd phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5d5bfd8d-e167-4741-a6e3-26c06025a122 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d155a99e-55bd-4f50-8dbd-61d75acbbd9e phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d86d4e64-7aa7-49b0-b78d-2fc6d2651846 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4f930c99-60c9-4349-a9a2-84f348eda6ce phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f50cd2f9-e08c-451a-bfae-675eab820ca8 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd3a7535-2761-43c9-8e25-cc5e027f1ed1 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:14edaa9e-6bbc-41cb-9a20-1a7f0db28714 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7405c4e9-60d6-4ed2-95f9-81a476fd8c08 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e3ddf139-6ecd-4a5c-ad5a-6d768c71f9b3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d62c6a05-1a8d-42f8-afae-2ce94abb8d92 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5dc2d4f0-d790-4382-aa32-21f28b908122 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0a946362-4d42-4040-9b1a-d96c0dcd9c16 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0524d54a-484d-48b6-aab9-44c9fa6a7845 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6f9ae67-0eb3-4e59-884b-365344935ca5 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d2595405-eb0e-459a-8eb9-4e0de521d1f3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:88fb3a22-3a32-45ec-a4ca-b85a3a5d6ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:609f2fd0-0d92-48f0-879e-ce2aa84f36a3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:865d2a86-db63-4ea2-a39c-906bc94ced1a phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2cf00012-a753-41c9-bad5-855879173a7a phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c02de95c-d1d2-480a-a5fc-d925f81b913d phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2668c53e-1204-45ee-a563-ba29574c54e4 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1bc1e8d8-5395-48bf-aeb8-4f0cb73e7144 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:5ab4515c-f6d2-41d0-a319-d8bb92308770 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:ecc87c01-5847-400e-860b-1eb0c3d7ff5d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:bb3e095c-b99d-4feb-8a59-584b8140d20f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:430d145e-e1f6-4fa7-bfc2-f6605410169f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a86452ba-4357-4f37-b2c1-44908460ae78 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:94dcd1a6-0587-4dd0-9912-8ce0b3b0cb21 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:53cc6cea-960f-4e26-8a48-988e65c8700e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:19ae7bd8-1484-4bfb-9231-bf7258c43ee8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:882fbbcc-5000-437b-bdac-914cdf5624c6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e89e0b92-401e-4d67-add7-4ce2dbfaa2ca phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:4b78b2ec-df74-4c21-9b94-3efbbea96066 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:267a3f58-25a7-47e3-83d5-f3cc0ee186f4 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:90ead890-eb04-458b-adba-017b6bb738f9 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a0868e18-1431-4749-9778-e7b02b776f5e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:bdc8e806-8fae-4810-a70e-56f7f9fd984e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1038c646-429c-49fe-bb25-0f8158d8b770 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:62bd4d2e-c17e-47d4-b286-bf29972b83ef phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a29b1136-9d6e-4db2-acd1-fff47f154e02 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2e9db605-bc01-4a3f-945c-e86c2f16a43b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5fd8bfba-7bb9-4138-bacd-a710473d877a phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e7a1f631-aa30-4d1e-a72a-37ac6d5884f1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab509563-0d4d-4444-ae1a-7c9ae5ed26d6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b64e0fb-2dac-4d5a-981a-b3ce477d03d8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d7a9179b-8c9d-49a4-94d5-1be16b7ed26b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5cb0d39f-62df-4ed9-a1e9-b4d363832b94 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e4c8c2eb-5ec8-46d0-96f5-5231eb9be70d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dee02824-9ee8-47b3-af3f-ba9de68cd3c1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b533d1e7-f0b2-4db9-b45f-e4435d3b7a9d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8211c1c2-b54b-4f01-bc87-e3a337e3473c phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:738b301a-53ba-4556-8d3e-4ea117152f0e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab94fb39-28e9-4023-ab50-9d28b7e321dd phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:eda818f8-2db9-412b-ab50-b0eaa9942c42 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:18ae8b32-86e8-4464-ac6b-be8d0ac1678f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:53106ee5-55b2-4175-8982-0e3ad0020c0d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a4ad4ff0-c619-4814-8a34-b92800d75988 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:996d5d42-b110-4fc6-a9c0-58b23d6836e5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f2117400-82a5-4662-8c2f-0b289ab60a91 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6bef91c-3028-4200-8468-66494f9b693e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de828263-ae04-46f9-9134-1a713f05e692 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d290bf76-c7c3-4cab-99aa-30fdba4fc185 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e6839f96-ecac-4415-88e5-873208bdc9a0 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0e928b7-9332-48a4-a1da-f41d6fe00cd5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5d797f86-7173-4e79-9f33-3c30d47d12d7 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff06bd39-0891-47af-9018-c0168b92f5b5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:213df4be-ab00-4765-bf94-5df91555fdf6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6c7b0642-6846-4f9e-b870-0f14500acd4e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7715ce88-67fc-46e5-959d-4ef449e18ec1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2240bcaa-d645-4f2e-b59f-e99ee4533cd2 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5e5f1fb4-b059-4a5c-8f62-4d3f8c50030b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:68708746-3dc3-4efd-a3ff-815d93ebdbbb phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9500f850-df7c-4e5e-ad64-22142969b3cf phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ad1b2404-84e2-4a7a-8391-06e9ace930ad phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:df23a5fd-45fa-4cfd-9910-fa21a8315685 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:c2256223-e3b1-460a-bf94-d5fc6dbe1751 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:522ed356-ecf9-4b7f-a4c2-2639585180ba phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b7833fcb-1de6-4d3e-a50c-40dcd588e7e1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:963d8399-0629-4ed6-a564-ea29a3d6e663 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:56ce6fd2-a0cb-47ad-ab18-423f3b764501 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1b6b65a8-8488-453f-ab25-bf1859ffc50b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:035c500f-1547-4520-9acb-be19945e6bdd phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:972af639-402b-485e-b900-f7849249e27a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:5bae73a2-a3fb-4603-9f5a-aa97959e936c phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0db70309-9e03-4f96-9a60-ea03539c1df0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5291719d-fea5-4455-8e1a-afa04e44597c phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ce67ebac-dfbb-4d84-a132-3a2a08410963 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bbfab5bb-c38b-462c-9ae1-c9b6426c33d4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d9afe48a-d786-40a0-970b-5514660791f1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:114e4c0a-5b0d-4900-9d39-a9f68c053ed4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store 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manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b548d13d-1b4b-4c25-aaf8-eca55b14451b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:817cfe0c-a7b8-41a9-959e-1f0c89a66984 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ce25823a-7340-4ac6-ae19-aaa260e68a90 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dd597839-1c64-4431-a0f8-5cdb6821e415 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ca54fb72-fe41-46d1-aa0a-a9ceb81dd8e2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d638b1bc-cab5-47c6-b457-e487e9b95469 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6ae0492-dc3d-43d7-90d4-2fa360d442f3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ddfd4ba6-67de-4c27-9bb4-7d9f83bb38c3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:33999854-eed0-4d7e-a9ad-8eda49c895e4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9c6e0732-55c2-4095-9b51-d719c1b6ffa0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fb7dd212-fb46-4ad6-8cfc-997242473922 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:69809bb8-5063-4ae7-a9d7-7ee3d5460a35 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fea59d43-8389-4174-bad6-5e17eec7536e phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:838d1fa7-959f-43b4-96e6-32f929680515 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b29cca8a-b97c-4a61-913a-93e7f8ab88fd phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:57023d54-7939-4961-a89e-94360ded0f0a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7caedd0a-682c-4221-855c-03f93e971312 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:71d2b812-21a0-4863-afda-54a250de4a25 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f2995b6a-6e61-400a-acf8-619f5f0a82f2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2bc13976-3e37-41d2-9c7f-d524f8962996 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:064175d1-1192-42cc-91ff-da85310e224b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:670f4330-b1a2-488c-a0df-5d742038dfe4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3e9f0e2a-f4e4-4371-ab65-e81a77e1ea89 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3ce614b2-68ce-4c9b-90e4-cf2a0216b666 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:701a75a3-3c53-4018-bb04-63602e38c1d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8eea993d-e6b8-4509-84de-5824b8df6a69 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e8663f39-f39b-4d40-b9e3-297ffa0a1ace phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:281cedb3-44aa-4c55-bc41-a3dbd5615133 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:132f7f3d-addd-4f31-aeb8-c1c27a240f2a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3d0f5ec2-1d82-46a8-9249-2c9f219dc05e phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3ec83745-7df6-48ca-8840-4af0d8cbf7d7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff3d8176-ad6a-4776-a440-7e3560bd1eef phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4a296fc6-759d-425a-8bfd-61f570a04754 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:edb7eb45-f6ee-41c8-a512-756ec76d0944 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7ba5b042-a32c-4ded-b6eb-204ade285884 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:24a9b65b-805e-4001-b77b-f1210f35a929 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3876b689-3b08-44f8-b3e8-a9aeb2bbaab3 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1ed550a4-4857-427b-aa1c-79e1e8d946ac phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b6266654-2939-4a93-a69a-2a1fc3e67d0a phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3612645c-feaf-46d8-85fa-86b8c6ad2d1c phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:0e0f988b-3c7e-437b-be64-35623dc2ad02 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:6bdeb287-6318-444e-bbbb-6efa2f43ba80 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:da89832d-0d5c-4783-9edd-a80f0c213f29 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c27dac2f-f98b-4f78-8919-4cd2bbad3ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:2292f5ad-ca98-443d-8e1c-24a075d78314 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:98f55eae-653f-4e11-8ee4-192790f2b730 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 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phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b242904-494c-4d22-8f0b-e03035c9a4a2 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:16ca7ab6-cdc4-4a0a-83f9-dc3366978e30 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cc10f1fc-273f-4a01-94a8-b2e0b3629ae0 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c0ed0cd6-fbad-4d4e-ace6-3b4fe27f00b7 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dd078082-e258-45c1-a077-6d0c700707cf phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5f50cffb-dfde-4841-800b-3664e8618d05 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:957040d8-d2a1-4849-8b66-ea762781916f phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d78203aa-59c1-4381-9022-39daef1e8156 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3aacadfc-94ba-4b2c-b3dd-3b92665feb63 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6eae1889-e65c-4c2d-b159-f6e339b0d475 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:158ddf0c-0069-4397-9b50-4f980eed0655 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5b915e5c-bfc4-40a1-b43f-8a3ee7825cda phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8906abdf-18f1-404a-83d1-fd3efd4bc46b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6909c3b4-17f9-4d26-9d88-1cc26a10b092 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:acd150dc-aeb9-4442-973b-3cac33137bd3 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:edff8e9d-f4cf-4943-ad2a-eb0292375e68 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:066875c9-be07-429a-bbf4-9006d0c515c7 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5357f74a-f1cc-4ad9-b400-eab121b35aab phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2dff5087-3943-43b6-a275-c24da55c880e phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:77a7ac93-4b37-4027-8f68-0d378db7ed5b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ad008ef3-5e50-458c-81d4-282822b5e51f phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de96b7b1-3834-43ab-8588-b9a77fea90fa phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:66bf0e26-20ce-4e8f-a5c4-7fa5c2c6766b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1339fe2b-69c2-4f77-b08c-7e2e74ea1fc0 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1837130e-72ab-44de-8972-3aec128d08d3 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9fb3e20c-9da7-48a4-acca-3dfd3b40fbd9 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:270ffc3f-df03-407f-9124-fa871c2fe133 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:6f8cc534-b4eb-4481-8a09-7144b5da9ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:07ed64df-dce2-4b28-8774-38b241b24ce6 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d1801b27-7e33-4d9e-aea1-f44569597029 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b7902ac9-f249-496b-8b49-fd49688d2dce phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:41155fd8-3dd4-44d9-b32a-78ef711221a9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b5ecad74-0f10-48d5-8e8c-14e87fa0772a phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab2bf365-5a83-40d4-b368-6f88cc6d7c64 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:99c6da71-71d6-4ead-9c6d-86ac1f0bd01c phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b93cc16d-19fb-46bb-bf58-72d6e8995e9c phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d4cd9a8a-964c-4ac4-becf-4cb27e60fed6 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5075bbb8-105e-4646-8f7a-c76b844cb56e phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6f35ccd-ee49-4caa-83c3-ed38705535d4 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:50971279-83db-4109-877a-f53ca46d2ed1 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b948f2a-f1d9-4ab8-b423-a210d4b1ebfa phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:734ee21d-365b-43d4-901d-d94b6692a8c7 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b1f2b42-5bff-42cf-bfca-22883819f773 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:638aa60b-391b-4bcb-9b62-17da015828b9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:95f788b1-be88-4b80-975b-054db8ebaace phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:056ff923-a09e-401e-8cb8-c60e3913b2dc phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:30ef1a5d-1407-4d45-b376-77400633caa7 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d1b57005-2a0b-45b4-b8ff-6c1438b35f51 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:76104393-9da7-4b96-8aa3-65111a0265ae phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f7ea3d8d-56ee-4c1d-ac85-b7dbd457b6d2 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c8bd6338-4841-4340-a730-eacef70bf922 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bfaa35bd-c9f8-4cae-bbf0-50ac55bdd8e3 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0d94b5cf-be6a-472c-9731-d191b2233243 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9bac5d9e-d0f8-4605-a79b-0be8662063e9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f42ab06c-d1c4-47a0-8ad0-a0ae8c0d5bce phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6132cd1b-e497-4f87-8f97-832586b0deb2 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2db26385-3184-435d-a61e-11238c593e66 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3f9b2c4e-91ad-4d48-ae28-9069abbd668b phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f26bd273-a79c-4250-b118-5a23314424dd phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a05b731c-80a1-4a43-8689-ab53bebaadcb phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:eaeac955-d2af-434c-a8f3-42356e0d2ae3 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:16a70557-911e-4ce0-bf93-166960684785 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7f382bb1-0625-46d9-9cc0-c60e04a25b94 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:0f1c8e8b-86a6-430a-ae7c-eeeae364f593 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4c63b2cb-854d-4415-a069-9a998a93448d phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d1fe1717-4a3c-45b1-80e8-05361b288eae phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:542904d4-6bbe-4110-9810-ba4f27c089a5 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8fb558ed-91b3-4d7d-aa0c-5e01cc97193d phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:74f91d3f-e73a-43cb-9dc7-53e7bb50bd56 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:57462d32-ee77-4bc6-84f1-17b10d2c7030 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d9c285ab-ce3b-455d-89ba-48986697911f phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:21825f7e-e4df-48f8-8a38-7b3ac664dacd phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3aee62d2-2a01-4ed1-91b8-6374ad20024e phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:21348188-67f8-46a9-b55b-84ae942e3e3b phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b2cdecb6-3d1e-4dfe-8ed2-e4d187664cca phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c7b05af5-f697-4aac-b5eb-d767e2b63a16 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 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biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:bb1dce57-3b51-4c5f-91c9-8e0627d6593e phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:9a15219d-6944-4593-8af3-e1642cc43740 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:86910ae6-24d7-4abd-a553-5392ed4c90cc phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:a81c66fc-3636-4403-90b2-f6665739c5f7 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_gene HGNC:19048 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observation False P18D infores:phenopacket-store PMID:23099195 uuid:fec4c0f9-8e9c-4c5d-a3cf-007873d2dc3d phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:5efad905-c58d-4d9f-901c-39ebf20bcb45 phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:6d4bf5dd-2576-4a16-9f96-2bf08a94eb6a phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:7cb682e2-5eae-459e-a940-6a72374a2b04 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12D infores:phenopacket-store PMID:23099195 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biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:1149945f-50a3-4f36-8808-023102383268 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:f401c1db-5a30-4d4d-8696-1c4c3936fabc phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:cc49e24d-bf3e-48a7-980b-845e98b04c83 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:506a7848-90fd-4307-9d4b-74d30d9e53e6 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:e862dde5-2885-4f4d-acb6-37c0230545ad phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:ee7d16b6-2b4b-4a9c-a99e-0e7ca4616d94 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:23099195 uuid:a39de118-2616-4053-97c9-259e0c4f00b4 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:0e856b97-8809-4c85-aab9-49d9869ad1cb phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 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uuid:330d1040-1dc0-4140-8473-3e46ff7a268f phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:f2ca0e07-6949-4d5f-8d3c-8a3bddfb9441 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:c049b298-9cff-4ac1-8e22-818b91538519 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:51c4bbda-b181-4047-af5e-63b4c2bbc9d6 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:1e3bc914-0679-46f1-8210-ea153a111d5e phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0012127 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:8d0a9247-92a6-4dd2-a86d-ba702d4890b2 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:85b51753-4c2c-4465-8159-894e47a0f971 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0410066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:aa01b0bb-6ef4-41ea-8d92-62c7c0b747b3 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0033409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:81cd4b13-6a6f-493f-b651-d9c823e89119 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:43a314fe-a03c-4e83-ab46-ffd9b378dbb8 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0034661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:54125601-25e0-4114-b3e5-5328728defb0 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:23099195 uuid:9a8c5448-c3a7-4229-97aa-8497d29eced2 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:8073b06d-5924-415e-b1d7-a0409b7db4ee phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:6a039f83-f0f5-403e-a47b-8c39ea82cfff phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:49aaa9d9-a8fa-43e8-9ff5-f9c5da392c26 phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:a36dfd66-4598-46fc-9ac4-931f4f909ba6 phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:fbe99792-9de8-477c-91f0-4bbcc2f051b3 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c086563a-9556-4b09-9318-3e8cc3d916c0 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1612c7f4-0f04-47e3-803b-5afe77f25aa7 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:31efb548-1796-480e-82e0-566040def8b6 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:325df322-f966-4d5b-8d46-8f612c91de7e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:9be2e22e-8a95-4d5e-81a3-505da3451195 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:da11a15d-2dc6-4c92-8d0a-2fc11cdd084a phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:44283cf1-3abb-4298-bc81-f7728c28fc8e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5f0c0404-6010-460f-b566-866f3efc7b8d phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:9680ab8b-45c6-4180-ab6b-5bbadd421c11 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:039c505e-ab8a-4aca-81f7-610996c0ee98 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d23b4f14-3f71-4fe0-ac3e-c8ab7f2311a2 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6cc8fbee-bf74-4936-b5cb-ec9a07a8d39d phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9a81d1fb-7e6d-4e96-9c99-2ba03a83b72e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9336d4e9-ed5b-4682-833c-d17c8a5a86c4 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7ce63836-f3e4-42ec-b070-b0492283300b phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:fa16df86-c12f-4b6e-858f-8a3981b7785f phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:bee95c2e-3916-461c-befc-75531d0ee1cc phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:687a4e0a-80f8-41f7-9830-38b15fa64139 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:28137957 uuid:2bb387fd-364f-45a9-81f8-498cde7ea861 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:a87adfd0-c2be-4aee-9591-973d1c124963 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:36247900 uuid:721ebad6-fecd-4371-8e18-bd02407a89df phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:b011bcb8-1df5-45f9-b0ec-e3ab72d97e5a phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:b79cb104-9890-4dd2-90aa-a549126e1cf0 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:46976e0c-1338-47e0-819a-6d4bbb1194eb phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 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phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:83e5ce05-8e92-424f-bb35-205b192b7018 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36247900 uuid:c563e0f1-541f-4b1b-9d64-3ab26bfb9ed8 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:36247900 uuid:dd957995-e689-4818-b065-9434d2c6304f phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36247900 uuid:ac286641-7569-47b9-881c-f6332e9c016f phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:40a96140-34ed-44a1-be6f-59797623585d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:e60d962b-92e4-482a-8c52-a0f58993d20d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:ed6a0f44-3d3c-4eb5-903c-ba35ce613a9e phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:c3f9a5d1-bc33-4af2-a070-8b43868f80b1 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:0387c7ef-0739-427e-80e0-5a7e3d331186 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:496e3412-87eb-4024-9e6b-835b061b6574 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:05d59f2f-4822-4225-a883-403d18d660f7 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:122667f5-9d96-4f69-bbc5-a9f8ac6d3f6e phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5b65e54a-ece2-4847-bf10-2f0881bd3fe6 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:8303d964-165c-46ac-a9c4-a5f6afb90a0c phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:4d1422f5-984b-44b3-a566-b6f06496f348 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:e8807ec3-ec4e-4d8f-a9bd-e2cc3e43f50d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:31944623 uuid:2d6b92d1-fbb2-40d3-a03c-8287728134f3 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:16142115-6700-48bf-9c55-9dd3a46c6ec8 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:f22f3711-334f-4c8a-9af2-807eb4aa533a phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:deffec82-9314-4402-9c90-807faaecc80a phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:f867d61c-d571-4dd5-90ca-f644b1a5a840 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d6645157-2a95-4913-b070-154e20401f68 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:2e77eb53-6869-400d-ab2c-bde133873ce4 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:912bdc7d-c139-404f-b36c-d204864e884b phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:33a74ca5-c991-40a4-9f53-e9e731aba0a9 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1d436cd0-e08e-41d2-8d92-249ff3c9efba phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:80015c17-0f45-4969-87af-5a40c842b4cb phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:dcdee24c-34b7-430a-adff-2d5ee5f0b5af phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:bfecf654-abe4-4866-bd3c-f6e4c799a1f7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:4b600363-9d28-4bfa-ab51-422c6cd50ec3 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:0a06aeb2-5c46-4614-aac9-fc406dcac0b7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5fff4c57-1906-4eaf-abe9-d4b719dac655 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:1c5ce423-b0c1-4c3b-93b0-f1a9cbfdac06 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7e76c1d2-a94f-40cd-8a87-f207f1452905 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:493fdf91-2068-4220-aa1a-11ceab19996e phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:166e7b17-be64-41f6-8d95-6235d310efca phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:f2fbd617-0639-493c-b708-ea77ad62a9c7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:28137957 uuid:ec7fba84-e9d0-468d-950b-7a4acfeb145e phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:6853b7d8-e1ab-4b69-85d8-983793661880 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:0ef85fd5-7346-4c75-a76b-0e5200c314ff phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:1b89fe8c-a919-4b6d-96d2-875574d5f34b phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:55cebb98-6ce4-4dba-875f-8e54faa9688c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:a5a2a6a1-6835-4377-88a0-9ba0956f7be0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:b67fafae-0ba6-4601-9b2f-0fc0b9e3ab5c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:10741824-ed20-4ee1-b0ed-a39408ec388a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:102a98bd-51bd-42cf-9009-e1fb2233362f phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:a1e05d4e-2b2d-4666-b4e0-3b4966957f8a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:34e5af54-f0a5-4e87-b0a5-04d9d7d57eae phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:2a0a7e47-1548-444f-99e3-30e01e63ad87 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:929095fa-08d4-4590-b483-5bb39eb43ae6 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:2f9c87fc-b16d-42ff-b2f8-83749c437d25 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:1a90c845-5cad-48c6-8747-9d3df09f6e1a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:5e9c359d-6c96-4b8a-a7af-6c2b0e22ce1a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:ee6b8ba3-35ba-4008-919f-1371b9c4b73c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:50ef26fc-09b6-4c70-84ad-a125fb004557 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:cdd8362d-ae8b-4ced-a38a-1448adc3d6cb phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:871046b6-7390-47cd-920a-524eddceb23d phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:5d136314-096f-4ffe-892c-230a864571e0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:e1f99207-5d37-44be-8231-664124f6bf87 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:33862550 uuid:9b2bb8a9-6bcf-4887-b5c1-bf976e38a7e0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33862550 uuid:93340021-b057-465f-b693-deb24bda62cf phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:954e8cd0-15fe-48ac-a0c0-d1ac461fe572 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:a896ff02-6354-46a4-95dc-31c4bf84e258 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:d5323fcd-73f2-4536-9e82-4f76b2a02ac6 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:ca5c8487-e77f-482e-9ada-c7877b979523 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5622f8a0-f7c5-4ad8-ba36-12d88b2a1318 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:434a30c4-fdaa-46cb-bec6-605418b7768f phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:d4b3ce71-485c-4f37-92fc-3290e8581168 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:4acdfc00-9320-4f82-b89c-bf4a60f81970 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:1357d89f-383a-4045-b935-4dfff0c56bff phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:601318a4-64d2-4264-9147-fadd1ee8790e phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:10555061-9d2c-4321-98e3-fdf82e31defb phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:b9391173-e739-4d65-ae04-3d61f4f3faf3 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:31944623 uuid:b64c5ad6-7e8c-4655-8214-27cdf5506aea phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:35b3d8cf-3bc7-4d5f-99dc-9caf74860fd1 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infores:phenopacket-store PMID:38252374 uuid:55d46383-0936-4126-9d6e-27d2d5996ab8 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:38252374 uuid:db65f173-98a4-465d-9aaa-8473ce7fd1e4 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:607b4fdc-2319-4117-a39e-ed84af0f80ee phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:3c955d03-ad8c-44c7-9721-4ab772811060 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:701f934a-1800-43c3-b2d5-bc3c53768f56 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:fbb04e52-b888-4622-8b88-11d88e180cdd phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:91ee084d-da93-4628-8c02-41a0981723bc phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:b73e93bf-c475-490b-90c0-03b2b9b26944 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:38252374 uuid:132dd11a-0d18-4f6a-a9c9-111ba2c03d7f phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38252374 uuid:89073827-ca7a-4b0e-9345-cfcc06264ca5 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d26bc5c4-cea7-46a5-9ba2-89f5caf8062d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:8187700a-ad42-472e-a14a-88c7e4d262e0 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:7f0ed657-c31f-46ce-88a9-7d0f8d48caea phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:b2e0a7a2-612d-4c30-bd2c-ddc687724f7e phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:40d272f9-1202-4741-9126-cbb25014cabe phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a68ef46d-cfe2-46c5-b5c7-fd740ada0219 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a2e96442-22a4-472b-9089-17289694dfc5 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5c0ca87e-1c3e-43ff-b1b2-8ecf7e6d0e1a phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:bc2a848e-eb15-4a90-9401-3d3f948fe3db phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:8742a619-fc8d-4d09-93ef-b32de342a47c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:551b06f2-b6cc-4ac7-93be-a1c722f4c5f6 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:344b7de3-546a-4efe-b754-79081bbbe2bf phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:47ae2b37-be19-4c3b-bf8d-d2266d8e9818 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:73a26cec-5b9c-4967-8ed9-e9cbe25c8a36 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a52c27b6-cab5-4e4b-b054-45d79e883189 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:002f1010-36c4-4bef-b4a6-f777f59d95d7 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:ec87ebdc-d3d2-4da4-b9d1-a1281ba024e6 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:91c74bb3-0cb8-495f-82e8-60e6f2e8dfe4 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:074ade6b-1e45-4c87-a4e7-11d730e0b37b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:28137957 uuid:89f059c2-bdf2-41ad-8e52-b8d4365a3573 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:24d88d42-4407-46b1-b40d-845f7c97270e phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:ac0c057d-6586-47a3-8f5e-0a6b4776bdf9 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c4b757fc-cbc3-425f-b57e-7fc5613e184b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a652d284-f254-46c1-937b-51ed1cb80438 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d2c74ff9-b09f-480a-ba30-3906c01b6282 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:41a5a1ef-18ff-410c-9cc3-c40d735179ea phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:8a58c442-c169-4a65-ad6a-385836284274 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:56ca1d31-ca79-42c8-adcc-e8d42898433b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:178b878e-6a9b-43cb-bb5e-c6a60320677f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d5201656-7be0-490d-abb6-8cff587bf10f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a1c324e9-776f-42bb-bfbf-569b395b6121 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d394f12f-9237-4457-b14a-92d374600510 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:47380d91-f0af-434f-9106-6e70276f85fc phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:293d98eb-ded6-4312-8f93-2a53d7d76789 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6c8a47fd-628b-4d02-be33-6a9faa2a3730 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:eb73a3f5-7a36-4b44-a78a-125b481c6d0c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d0c16736-cc81-42f0-b8fd-b14ed2cccd63 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9513b29e-2eb1-469f-967e-a4c18839892d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:982ef922-9645-439b-b2f2-5ae966f01b45 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a835ef25-91ac-408e-98ea-7faee70ab0d7 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:28137957 uuid:10bda2e7-0796-4ad8-aa36-369413522dc8 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:c3d91695-5dc6-4bba-b25b-9a808f2758a9 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:35e4e00c-75f8-4fd3-b75f-a78d46b81f12 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:38a8da8a-5831-4057-a7aa-a4342f775dd2 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5e1179f8-e086-4870-b7bf-7c907fc46025 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:0a386b0b-d580-42fb-aa79-7fa6231ded71 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:3d1adffd-8856-4ae6-ba4a-b2d9f04aa4dc phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:1c8d7c68-c878-4d2f-9a9c-73cf255647ed phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:3de1bc91-0fd4-416e-831b-5a7d026a2bd6 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:e514ad6f-94cb-4ca8-a188-6d5c0d12b180 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:337c690a-af60-4d85-ad01-f688275e9174 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:39094c6a-422f-47c9-a61b-dbcee47124ff phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:8f3c9084-c654-4126-b2ea-c271804c462c phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:b7e97447-a636-4319-934f-cdf1f86afd4e phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:2952fc3a-bc94-4cb4-9491-bc016e5cf8d4 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:31944623 uuid:7efaa3de-3ab3-486a-9502-a4cd49022dcb phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:3608df09-09e8-48a7-aba8-d3ee2a9b64fe phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:0963df1c-6b14-4a45-8cf0-81c7261df610 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:3a92b379-1b28-43aa-8e6f-1813fb773258 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:fa1f5b62-b1b8-4d6d-8927-67f3f530b1aa phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:ac9ee3d7-4570-4fb5-b8cc-3fa5204ec157 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:4c9abf17-3efe-48bf-8626-f852f77af43c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:7cc2f185-6e72-4091-8118-9e97a354cfa1 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1ed8b8aa-ce2b-4695-b58e-85ff719862b0 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c44a66b8-3fe4-4c20-b909-6d83e5a9c631 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:f604a59e-21db-42dd-8c1f-962faf49c6ff phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7ad57239-08ef-4828-814d-60d5c094830c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6d486cdb-fdef-429b-b7d5-484b209433d8 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:42241ffb-05f9-4b26-acb9-4ea3c8043c9f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a10d3253-67aa-40dd-b598-3e2eab02652d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:69a017e5-3f11-41bc-9661-0e96a1fa5426 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:cfdd084d-8336-4f2e-a724-7bd325401800 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:70304a8e-19a4-4897-8a5f-51a203bd28e2 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d580679a-3803-49d8-911e-98169bfea297 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:237c591e-4a1a-4201-b081-05dbe4813385 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:4e653a6f-dba8-4414-a0f0-42ec47aa4c19 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:28137957 uuid:2b244055-cea1-4136-aae8-57fc26b23e5b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:312213f4-b218-4313-a867-3216ca3c3ed7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9015ed72-bc5e-4119-9ac9-4a55d434d579 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1a047c4f-cdb1-43b6-bb67-3a8044a7f86b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c5eecd90-ab6e-4001-97a8-38d2807ea2e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:195c5f12-dde2-40b6-ba51-7282dbbec1fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a0e712e8-6de4-4839-8495-be62b17dd06b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ec8fc9e7-3bc5-4460-9443-c1718f476c63 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:51d6b467-5c07-4817-8339-88406e55534e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0b0855c2-c3ff-40cb-bbc6-7c128ee665d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3ff90d8c-df4e-4e24-96a0-debe61fcde64 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:730333a1-8e34-4499-be4d-d65785a87d0f phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9420cca0-ee28-4991-aaf6-14d3102aa1bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f59d6a50-49f1-4b93-b3cf-59d137204b48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6b347de4-f454-4d7d-80d7-5611075995b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:51803a8d-93bd-41f4-af05-e9f2160bfbd1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9f3c48b6-0b79-4689-8736-22193b860540 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:37363a55-7570-40f3-bbdd-1e0052cac336 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:458a17ff-8896-471d-b573-e4a711c1bf1c phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9a9c9f3e-c7cc-44b9-b77b-8e87081d845b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8a24d2a-3e15-436a-aa9d-f00e7d4a662d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0143f89f-a4d0-4690-8aba-e4c344f317e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c25b66b9-be29-4d0b-82a8-77dfcd51b3f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04512759-bac2-48d0-a19a-081e80f5ad44 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:367ff55b-20a1-42d5-b7b6-88768cc5e0ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4874bb22-f54b-4a68-8945-bd498c8d128e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d677deec-81de-4f4c-b603-9a3c92b4b61a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59854b90-846f-470a-a250-221060a41439 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d8971cc-a793-4ffe-b2be-934f2eca3ff7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87b70f76-af85-4518-99b9-cd4d2322b821 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a969d2f4-a00e-4cf5-b5f5-34358c454df7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6db7dcdd-686a-4d0e-9362-017c35c3293d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e255731d-6d5c-4add-b0cd-cab2185861e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:881fc27e-27c3-439a-b786-0a685bb27282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b84e43f1-d2c8-441e-bb35-248e632121a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:550b7060-2557-4e85-808b-66837430ec5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d67b99f8-26cc-42a7-9b73-080b3a084884 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9744c365-b403-42b6-b3cf-c9e5bdc0cfa6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:40cf83a1-e9cb-4339-b2b9-26c4131d08d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:107f89d7-6008-4b88-81f3-6a2f0b509c4a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2004ee17-e19c-43a5-922b-750417dda9da phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2d2bb47d-bfbe-44d2-831d-6dc5dc7fa7b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ccd28cef-f3a0-456b-90d4-0698dd98c65b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f06abd2a-4329-409c-b970-9d5b900daff9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e42302e-d355-4e31-8595-1dba977ed298 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2013380f-6751-4f8f-8a63-e0d3a936061d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:903ccba5-0649-4d4f-b248-066e03264dce phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:505aa5c6-ebb3-4294-b911-740ec6cbba76 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:58b41366-d5e7-4fbd-a0cd-b523cbf60638 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c3feb90-9b6c-40d7-81b6-930bff130734 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1483e7b9-dae5-4bae-ae62-c7fbb21f13cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61baf8a3-667e-4cbf-90ee-17d47e36e8a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6ad7cc0-09d6-42d5-a403-e60b9c42162e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c63d286b-031c-4fa3-9366-c1c40f86eaec phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:425f0d12-2150-4c91-aace-eaa8e558d04a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:afd7a996-933f-4822-a2fe-8fbae1200039 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16e0c01d-fff3-4085-b645-1154badbdb7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31cf9317-4f25-47a1-9458-7a5afbe11aeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0218537a-d766-479f-95f9-bd84182edfab phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b440c1ef-8587-4edd-9e08-44cdb6082604 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:96ead685-6643-4b72-bdd1-fb52c35fd323 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1be9eeb-61e2-4ef2-82f4-795ed97625c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b45ae628-9e97-4219-ad57-ad8b04f3de22 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97f74998-b4b3-4c80-87e2-0841382d7450 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a5c381a-a8f7-4c7b-9082-ccb7bb801934 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:000b79ad-b467-48fb-94f9-58c18880c7bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d28bbbe2-50f4-4fb4-aa80-5eb3fc69b074 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5cf1e714-c492-4c84-8bc7-3446d540216e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7987d170-3908-4489-9cf5-896f8b1bb566 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff8d6c7e-edd0-4b8b-b30c-4fb7b250af40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f3d66e0c-b7fd-4d71-8ef6-388645b23cc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:36074901 uuid:b23011f8-fe44-42b7-978b-e17242a5d12f phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:a2570b67-aadd-450d-9a24-fff33e721079 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e2b3ab70-3b2a-4830-bd8c-20df23957039 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5be11d34-b469-40c9-8039-153e49f09df1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cfaa75bd-a8c8-4887-a61d-af77dbb54fd7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0aecef1e-0b45-40e2-b3a6-a6df25b284f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8ed24aeb-98f0-4d77-ba35-d9370273de81 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2671c17-5ef1-4a40-b19c-710e108ebb77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1261f1a-85d0-4488-9dd3-95342062527c phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91e608cc-1887-4985-9ee8-7d558f953301 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:960682ac-1bc9-4ebe-a639-841a79afd1f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5650d096-f7b2-402f-90b0-fb9a0d37d8f7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d86517b-620f-46ca-a28f-d5615c91f40c phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fab875f7-0180-415d-9ac6-218d63982790 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ae05467-e12e-423e-845b-98fa4ecc3006 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2eb9401-1fc3-4fb2-a0ce-f11748f0d993 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ea92e24e-b1b9-454f-b4a4-8a48658a9dd2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:506e37dd-bab1-4dd0-85a2-2b4d0a8b5c15 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8522c6d4-f383-4068-8e21-31213e69bde4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:22a7e012-12ea-4673-86a4-be8b3f84c888 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed060875-9960-4e06-b7cb-e37bf82f49e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d51a17b2-df06-4c1e-80ee-40990a04055d phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2f3a298-ed40-4318-9b60-dc33ef6f28a8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b2f981a3-a76a-4e9b-87a8-a7a80f9c5db9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b271062-e6f4-49ce-a7d5-0a3d1742da7f phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a66c318a-fcc4-4874-b8bb-3010a15c96d1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a78fb94-822f-4741-9be6-3d1a395521f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a28ccf9e-bf66-485b-862d-b6d02f546802 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88da41c7-36ab-4300-b88a-932df2a5e0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2145a5da-35db-48bd-a7a1-29cda2c1edc9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d09335cf-5283-447c-97a1-61d2a35b8100 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5481167b-5ad6-4c21-aa1c-318138d8c46b phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c29e3327-af23-49d8-be4b-7fd61008e780 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:432eb990-510a-44b1-ab27-d420a2e61d0a phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23dddda5-eb58-4e79-9f4e-cb5529816635 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38db1798-b8a4-40c2-a27d-0b6769aa8e9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:026dea72-7c20-4fbb-9086-fe9768a53147 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:27b75a8b-1285-4373-97d7-48664ce2f473 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e354d535-f1ea-41fe-85f1-1fe2359b72e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:b1fb486d-01dc-403a-8e8a-e6fb44de72e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:dff02079-1ef5-4261-b958-7d09b703a442 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:edd2dafa-50c3-4614-a0c5-8d16ba00d4fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e622c463-7236-4a79-bdc7-8ff9cf65f399 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3d85041d-0100-4580-8cef-fc84c1b89eed phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2d3994ce-51f1-4a65-9eb8-3b4296f4b321 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c34ebdfc-b65c-4064-b212-c18f1b09e9db phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:739e6e15-a790-4075-94b7-21c155676218 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c1611e78-012d-43cf-b8e3-9fa00f7e1af9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cb426032-4b39-4954-9b49-941e0582ac47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b3165f2d-5a16-4c1b-b0db-779c33521638 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:17022e3f-9372-4ce1-b6e3-d62e43df40cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7364e65e-0242-4756-a4dc-680008ae797d phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3dd36ff4-f90f-4843-8395-98c6073b8eba phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d1fc657-479d-458a-9bf9-6dd925af4d3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7737f8be-fbd7-4489-9aad-45c8295b7dd9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb10995d-c7e1-45ea-a95f-a26f9c22a418 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1a36732e-6b3f-452d-95b4-88c85988a170 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ec28e4c-5e03-4e5f-987b-f9b0f16f3f30 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:51d11d06-6db0-422b-bb47-1762f8d8babc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5b4c294a-27c6-4e5c-9586-ef3eae931026 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14d6a411-f5c3-41fa-9c55-045cf1cd3aab phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce520fdd-11cf-4076-a889-4ae25998c425 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ae1996fe-fb6d-4265-8a4a-ef9c828cae93 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:32a71f5d-04d6-43dd-b64c-c2e5644cecde phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c62731f-12db-4eaf-bf07-6355b0ff12fd phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f43722-0232-4557-a0a0-a713d22285f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:03ecc6d3-046c-40e4-9ef5-65c2e2195f48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7b306cf8-5b2f-4e00-8ee3-5329f837908d phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8ee611c6-115b-45f2-8e1a-993fc56f95df phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cec8463d-77fd-4527-83fd-9f329295fd46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d4ac5316-9511-4087-b1f3-2ffa35df4a62 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ff9a5b7-8c41-48d4-b1a8-0fd3f6c9e6c1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:83b88995-e15a-4e66-8f6b-c505c70c1ded phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62e1d48d-c143-4312-b3d4-ea8c5defc514 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25032e47-ae86-4027-abe5-7a5af93d7a0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61607ba8-64a9-4fc0-95b6-9c1274c2ecf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:179afb66-6f8f-4f0c-80e8-ecb3ce3ffbba phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:22f5fc7f-176e-4f2c-a22f-4a0e503b4a52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ceab56e-07f3-4538-a57f-ba7d6ad9d947 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ae53ba7-4495-4664-8532-214531256318 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8643b678-e964-4963-a98a-4abb763d4a5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:90f26b85-9e8a-46a6-912f-41fd25218445 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:45e07019-583d-4fae-b1b2-53844437c7bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52008242-1cfd-4169-918d-ba819c01e25c phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:740ead51-53f3-4134-9ca7-b27664bd9d55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:488244f1-ab10-4bbe-a8fe-d38fc4940aa8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed15b6a8-990f-48f8-b594-64109afd5db9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e4a3a869-a115-47f1-99fb-c604d0575db2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:821e2efe-85d7-4ebf-aec3-d58e4242607c phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:db10aca5-8778-4bb0-a523-da50fe5d5cec phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6833224d-29d3-4cf1-9563-fe0099ba6d9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0cda9c3-ab3b-4cf6-a7be-32e5f040ed33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a81dcdb3-ca34-4d1d-94cb-ceb38648ef4a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ad8637c-fa59-4ad6-8414-8407a33c3737 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:987023fa-716d-49e3-992c-02fd507659e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14c73c9d-1725-4a30-b5b0-fd734177180f phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fa7a31bb-3eaf-406f-96c9-b13e6378abd8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ac2b74c-8488-48cc-9cca-402414c0303a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c7df3f72-d36b-4ff4-8f59-627d7d05e4fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e63bfc8-9f7f-4d4e-b42a-489cdf951e2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:28131f9e-ab9f-494b-9c73-01026882ec51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:68e94528-f918-47db-b042-2893a8ac07aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:12ecf944-728f-4b59-a017-5f6e4e26f7e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5061a404-504e-4e33-afa1-3444bf8522ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:36074901 uuid:c77ccfb3-f122-4bdf-966f-8615274c1145 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:fb3e7f17-a284-453a-ba18-121a8f75b9d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:392c50fe-7e1d-4232-a383-36b2666f961e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:41e01dec-4909-4b8e-8eb9-d3ed051c8db7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bcea522a-9995-4220-addd-fd73a69bad3b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b8538c7e-612f-4213-984e-655782fe4aa7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:745b63c3-8867-4f32-bda8-e2ab40d7268e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a41a24c6-79c1-4012-bcba-12109fbc1c32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:54f69c82-0cde-47b1-a2e1-7f39863e2cdf phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1bc794d-f689-4a6a-b77e-ed9ad803d4b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:795fac53-d7fa-4258-9af9-73af9419f5e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dfece396-020f-49b6-961d-b048343f45cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ec0e1307-a776-478c-a58c-4021d35b111f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14d2d3dd-4980-405f-8359-e886b64b901e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25027351-7e4e-4b29-bf62-2bb558b1947e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f8c5c795-ec50-42df-b3ea-69ee034b8657 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:145d4ccf-d4fb-46e3-af77-ade4a4479e7f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16c00b37-ee0b-4e36-854d-b7e8ab65fe56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bcef4f6-3438-488a-b0be-9bf221f77293 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c47abeac-6ebf-4ef2-9e55-edee5667b72d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ef03a89-5f10-4471-9d46-06e8767bd64d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5fb7e4ca-9e9a-4cf6-8411-1169e8115d51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:284fc84a-e271-4981-94cf-fdd6654268fd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:242b333f-8620-4bab-ac37-f27004fc9cf6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87da3c62-6d90-47d5-afea-d4508feaf8d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72e3e493-d7bc-4874-be3b-a6f7b67c4dba phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:960a2f24-f45d-4acb-96fe-94e83ed3fed4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ecee715-eeae-4033-adc1-01db9154aadd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37842acd-e757-4c08-83d9-a55dc060dc5f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ffaf15b8-912d-445f-b949-69378db14627 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abca8fda-fae9-46c9-a31c-26e9cf98c616 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ffedf2a2-3970-48db-a186-6056a81b0343 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31b31c14-7caa-4a85-b437-f47749b6c7f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:819059a8-2b1a-4882-86f5-e71754a4e35c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:646b8d14-6f05-429a-91f8-8aff9fa2a44b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a4b19acc-81db-43ed-b90f-5e19ebc5d016 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37211148-3b68-473f-91aa-3bcb7fe101cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89351e6c-633f-4389-9e9e-11f3049fecf4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31f9e250-72a6-4a67-9248-4eac2443ddbd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fd119e6-059a-4755-b4f7-b345976b492a phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:faf1d2a3-c76c-463f-9d0b-0c6bcb32defe phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c138055-9d95-4ed8-8492-d60cde36a046 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd03c49f-9198-4198-9720-f7f79c84990d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7fab94f-9c49-49bf-bba2-70fe90bcfc9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:655a22d1-5b6d-4b38-8fd0-2fccd383cc17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:052be583-5ead-479c-a543-004bcc861177 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1b7b90bd-81bc-4bbd-ba76-94e359fa6a4b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1875f9cd-36b1-46ad-99af-4c8406320185 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d02d9826-7999-411a-b470-74f0aaf99df9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2aedfb50-92a1-4b18-9a47-156e17307064 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92e4fae0-653e-401c-9e88-fc0e22ef3d2c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15ced86b-41b8-452a-8dc4-ae89840fd83c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac53c5a7-9ef3-46f8-9a31-2be83afe6198 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c728029d-0d22-434c-a37c-5c4cb50c1c34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72dbbb94-6ebc-4f49-8226-b0f811d0f536 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d32755b-3026-435b-b87c-e5ffdb5a7a8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:effc9c62-ba83-4972-8f27-93b15ab7ca52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8a4fe65-a48e-4215-9bd9-4adece28a7d5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1a7ee9fc-fada-451b-8de8-f3887f3a9cff phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7414fa8f-6dc6-4e07-b2d9-06bdc60489af phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:996e22de-4a68-4043-afcc-52de512c373f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:db49555b-01d2-489f-881d-5116d4a97826 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:931980b0-508e-42ed-ba72-08be6edfb1d6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37161035 uuid:5d10971a-e865-46ee-9459-27dc25f62a01 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37161035 uuid:7029d6d9-4c51-4ec8-a261-6b1fb1bfa86d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37161035 uuid:44423eb5-ba90-4d93-b51c-cfe1b0d08de0 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:cd39a1bc-6e3c-4e4b-ae95-2425c47e7a59 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:d53a0b5e-40d5-4e95-bfdb-f4e770a24a67 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1669f388-a07e-4e52-a9e5-8879cbb3aa8d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:0988fedb-bea6-4262-a452-28d31783bf7f phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3e1938d1-e20a-4af2-bdad-05c628e3ae59 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:acec017d-9cbe-4af9-bfda-bb41762b779a phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7fe760b6-27f5-4079-80fc-d6bf0c6e42b6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:68b002e9-2bd2-4836-9b77-a3fd92d21eed phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1cc4aa68-e5b2-4590-a908-cfa2596c6919 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:fd5f8ed3-9846-43eb-b72e-4768ced3fa6d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:6eafbb86-c9c5-4cd8-b949-663cec6eb37b phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c0aa5ddd-a506-4bfe-85d5-da2609470041 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:6472d9a6-ea53-489e-b2da-bd22cc346c49 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c8b1aee6-12ce-4d52-8813-7ec70e7d654d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37161035 uuid:3b2ce818-c610-4ebc-9fe0-c72346ccead9 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:0f8ae139-be64-4839-9889-c03c9fb99e08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:03f6572b-aa46-4178-8bdd-cfdf5e15fa09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:64f8840e-921b-485e-8848-6d75008d4012 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c2aaa3c0-9719-4ad0-9bc8-d66eee99702c phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7d3fcb90-8128-49c3-ac12-256aa66aaa5c phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:97062e41-4a5c-422e-9bb5-5aff645fcf95 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:10d8ff01-75ec-4e0c-9f50-af95cf82be46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9d31b88d-1de3-433e-bbf0-0ba8134b307f phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:68ef92f5-7b1c-4d2c-aac5-616a335d7776 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de29c162-7020-4725-9df9-1a4f90290875 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3c5bea3-a2ba-4e20-9853-a54d4678dcde phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:99228c39-31ed-4383-b10a-0be57f5c9caa phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a36cbb1-06ba-4fb4-b78f-abd5c39c21d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91089b31-4d9c-445a-8b22-f93d1ac56c36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bee02877-adfc-4a7e-9c36-ddbb0fa8a061 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66a9c74c-5d69-419d-bed7-00ba915d7f79 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b96d8a9b-1d9d-40ee-acb7-7457071b623d phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e816085-381d-4e18-a089-d0efde740963 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:71d03c4f-ca16-43f1-8f41-f03a38eb5f90 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad882e1a-58ab-4a4d-8216-dea21b8443df phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e57a7285-0004-4572-95cd-0198bc6631af phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e360342a-271e-4c69-b3db-ffa0ef96a6f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70796c21-f1a3-45cb-86e9-00ae39512ede phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:83ad0d3f-20d6-4e02-8020-f58076195a39 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e70a0729-cee4-4b17-8800-86894bbf9ab4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:36074901 uuid:77e0f5e4-1757-444e-8c1b-26e72db8049d phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:a130b38c-c7b3-48f8-b6df-e9395d61177b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d8e05e65-582b-4d6d-a2ed-469e24b0efe4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:05f70ef2-ff01-4667-bf6e-a669807b13cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:57144dad-a9a2-467f-ae7f-55bb00ac6fed phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:59f0f308-b275-4a09-8be0-c505cefe4c00 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3bbaeb92-d3d7-45dd-a0c1-d8effa513329 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:06ab0a0d-89dc-4d45-9c6b-a42b6880f85c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c94d44f0-f5bb-4bba-843f-67cf49bd6454 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ed701b0e-d9a9-407b-8adf-4add9824aeac phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:62a17ade-ac41-4858-9084-04f645f49d96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e3a9440-81e6-485a-91b4-4568e985e484 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44e779d3-f5d9-4c51-b3f0-5275daa6f465 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a6bb37a0-abb0-4b54-b8fe-9d10a0e8d83d phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bc65d6b6-504d-4d78-8ec1-aa4d504428f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ef936f1-98b4-480b-8b7f-a88ed7880c13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38f66bf8-9c21-4c2e-a6cb-7b99d93b101a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25500617-5c9d-41a9-a2cf-f74ad2ddc2e9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:636d148d-ced7-4f13-90bd-a4f9ac18cfaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa6d2b55-8091-4549-bcae-a3c27a6f5672 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b63e2a8f-fb76-46f6-b0a7-be1fcd80bec7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a09a7ca-bf86-41fa-b41e-608826952fa2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a4536dc3-7d42-48d4-accd-f143dc248eaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8abc16ef-2ebf-43b3-a882-106cc7382ae0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af0ec059-0c46-4e65-9b55-ee66ca18000c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34641bf8-daa0-46f7-80f0-ba852b503178 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2edb2a14-b82e-4b6f-9878-e27746972727 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9e9cf82a-90be-40ec-bbd8-a5f921a6b126 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:107cb3a1-3e3a-4d6b-8f1a-726aade8832d phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:56f32901-d700-4b27-b0e5-1f5e280bd0fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:774d067e-9ac9-4e03-94c1-9adbd76326e9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a4d190d-ff1c-433b-b752-9e89db5f347a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac5348c0-0251-4c3b-a067-3e39cc80e6f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:651d5e6e-afd7-4679-946c-b976cbbff6ce phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a09bda82-863d-4338-a4fb-27705abdb4ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fde8d42d-bad5-4e19-9648-947e8d299492 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6693bfd3-7a89-4966-99b2-e71b5cdbf2bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1c63284f-3750-404f-aaba-46e86c7f972e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a50195f-bad0-4116-8335-6753d0fbf35b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7798d109-be0a-47fe-9a26-dc28277664b8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:725c3e1a-e584-4911-8b09-98e53fb73358 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:538a0874-c858-4b5b-b6a3-1e50ed54d541 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:688bbb02-7b3c-4c4c-9281-f63c29f9bf8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2edc4ce4-4699-4990-9ba4-f5649fe0e5b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb3f6b7e-4d82-473d-8623-9bccc11360d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd1f15b5-c8f2-4b44-ae36-d700ce19e23e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8f3a06c1-d255-4d22-8492-e3c0f89045df phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a5a8e7ff-00a5-49f3-8ea5-6863dc7f4bfe phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:837d1541-8816-4f44-b06e-623bf8f6c2b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d66cbd71-8436-4c71-807e-eac42c48310a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62b955c3-b94c-41da-b93f-6016c80c85c2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9fd5cd63-924a-408b-a5ab-89e2046a7d13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce623fe7-8186-4ca1-9f0e-b39b8d5a766c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:061eb6ee-e49a-4665-8b1c-edcad50657dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c432ba61-de66-4e29-85ce-6673c4816aa1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b66ab97-a7b6-4e1b-96b3-9f0915785b34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:55d4f3ff-70f1-4f49-be5b-a394ffbb5f0c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cff883db-7d9c-4173-b59b-4fcd489d8f7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5fa410ce-4066-495f-a759-17273487fc60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e899dcaa-19ee-4d80-9a74-1ff4812674a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4da60d4-e111-46a9-9fe7-784583a45547 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:099db660-cf84-41e6-825a-f019558b6ae2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f860b3f4-10f4-463e-9b14-ef47759a37a8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f320a0f4-b575-4416-a9f6-e2fe96c51d9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fac4a588-2f05-473a-88fc-0ea1e7adcbde phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b70ac79e-f41a-4187-bc1f-14d2a8789727 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aad5c832-80ce-4c22-ad84-823436151fdc phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c12bd74-0ba2-461b-ba2a-66b3f96519cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:19025410-5088-4b7e-929a-d9d81b982820 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:ce78ff47-b696-47be-896e-b652ef0d87aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:29601f13-4f1f-4cba-9d39-3dc83e1a6711 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f9d10eec-a923-400f-a40f-41c83f8360a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:25d4947a-1bf7-40bf-82b3-87fe37328746 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b72a7668-f82d-4e69-8923-cf6b659408fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e984f315-d2a4-455a-acfb-96fbc3342785 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c568d6a7-8158-4a0c-bb64-b99073c5a76a phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd3bbad0-6343-4f60-8730-cb98256d07e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1272e6f2-fc41-4085-bc7a-74aec2443667 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8d1a6c48-3fc9-4bec-86e0-320e80b3bacb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:14e63c9e-93b7-461e-aa8d-eed0e4953d13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a49dbd9c-6df0-49e6-9fa5-4473279ac2e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8c3905d7-222b-4291-84c4-13fe729f5de2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cdcf7b2c-1774-4083-8062-3fa04a5296a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ebf3902e-c06f-464f-9813-6728d8850bbf phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8df3a64a-ab91-499f-9f31-394b9da37d0d phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4fd294b-156a-426c-b517-34e5423ef709 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a8101a1-e605-4ddf-98d4-f11805b4aa9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e99a1fb-ea19-4a0e-82d1-72e604b9feeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a3ead523-ec0f-4a67-b1ce-863c9da5b2cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1f730416-93b8-47d9-9a40-3b2fc09bc5cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fe2f79a-d5c1-4428-8a02-0f665fd3f7f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e7dd0b3-396e-4679-8d60-249260848761 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc7ced30-670f-4f32-8a2c-f17384b5f201 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:152a1dd3-eccc-457d-add7-e978e6c36b83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d21ea7b1-999b-4a29-b4d4-9a986a755b09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dca0e7aa-132b-4306-a552-2d90b956929c phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d67c730-e0ab-4be1-adbc-e183b3cb39ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89701c3f-bc5c-4f39-9da0-eee48cbf86a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:00b7e2ea-a86e-42a2-86ca-48c792f8e9dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:58fdcd40-4134-4504-806b-020941623dcb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ea371d02-6866-4621-8926-34d5b38156d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:da204052-7a42-41aa-926f-fa93b365b834 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a41453f6-91ac-4766-b1f8-72387252b313 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e99c16da-6418-4ac7-8626-861514f29cf7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b7ac79f-3c4a-42b2-ad9d-59047abd0f91 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9a6f4f8-0701-47aa-ba35-802b306298c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff45f04c-f1ee-4363-a13a-740db2c90e47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2d35eacd-0f37-4671-8c0a-1d2b0c0d6ad6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73f2a632-00dc-44ec-9037-5a9305adc66e phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7f9700bc-853a-469d-89ae-16634ba3d330 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6de26550-4153-4f23-8c0a-17aedd796375 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84c1258c-5478-4e6c-b35f-b5ce23103ee4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14ec3890-648b-4cce-a1b0-61ebafb68471 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ca08d51e-1328-4676-af65-495b2745da49 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f10a981-069b-4555-8368-becd85238286 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb4a7ed8-c585-4731-8c9f-0596c68fffc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce64d554-80c5-4150-b355-f8e530069f7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dc786972-4de8-486e-b664-fb7793063fc6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb30d9f1-99e1-4f09-a405-bfd2a241ee33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9aac435-ed13-4433-92db-4dd4f2076028 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3dbcc88-038b-45fc-8d0d-7d427ee6c5c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0841f52b-1adc-48ec-91a0-7ec32905ae13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b69eaf2-83ed-480e-96cb-40de8beaabf4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dc498303-420e-4ebc-83ad-44b4238c06fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a6183ba-907f-4d38-99de-82cde05e3901 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:087f6120-34d3-4276-b34a-0c8a35d39ff0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3891693-83d8-4ed8-8f84-9c3097fb25d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ba5fd148-9868-4826-9fca-b07495bb1409 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:acfce3d2-770c-49fa-b409-7e95c0f5248d phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:51a46148-0068-4935-9ab0-1aa5db645981 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:02a567b7-6df6-4364-96c7-bea0f09ad8aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f283cba7-6b8a-46e9-a41a-72a3c574363d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cefbf17c-4130-4307-a56c-f93ba9d03d59 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f5d82013-f3ec-4a9b-a1fe-eefad41a65fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4e2694f9-64db-4d60-a35e-fdb760b98411 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:de448f25-4bd3-4769-b0f0-cf2ba96a7fa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f46fa8bb-1d68-4ef1-9846-06651657b796 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:79af6c5a-ac85-4ae1-ba9f-35325aff45eb phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ed9d6630-eeca-413a-a25d-769a14d7d980 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c39be500-a45b-4ecc-9de4-11ce5eb855c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5b19018c-7402-4dcb-8e2a-56a46efd86c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6f7c6abf-5fde-4cfc-a51b-b83d6b343013 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:806c6198-d008-4497-9c3e-afa3d3b7ae4d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2281731d-68d3-495b-a754-b30fe88fe16a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7bc43675-cf20-4243-b980-847c05c2a262 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3363ba30-5c7a-484c-a0f1-75a0ac2e148c phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b9f1244-fb4d-4b84-8e05-6c6207245c32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:727b4e92-f32c-4706-b899-207361dec1ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:319c4e63-19f1-4915-8351-4ad3a8c3e074 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9be7ea89-a03f-4ffb-ad1c-7f97f1cb28a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f32bbd38-debb-454e-8f3b-1bc8989ac49c phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c20d65fd-6b94-4c2a-b074-06b39b400b83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02011533-e2c3-452c-9ef8-21d605a8f0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:325393d6-77fc-4b07-ad43-3e7af1d5ffac phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02f2a0a2-6631-4588-9ac7-a95112a86fcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1deb2fa-4f04-4055-a3f3-d2c0b4baa0a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:770933e0-2060-4427-bd29-2ded55c08300 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:843f7802-f68f-465b-bd1c-77319fb42a7b phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ddfde666-cff5-4751-a035-cb58c6085e46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9805f1a6-5092-4954-9255-8d5ee7ed2282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:124173e3-7c01-4f5e-9e46-66335f4500da phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac2864d5-a09e-4c48-8444-8aa4728ac1ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d871681b-5d35-44b2-8eac-3f39d155d25a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:36bc7a50-a5c6-48fd-a582-01c510fed0d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8471325e-dae3-4aa0-b8d8-6ce94e85be47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4afc4f58-688a-4d03-98a3-b86465e3c983 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a703d17d-b171-4ba1-8a2d-faa5bc90cc4f phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ccaa1321-f9a3-4d42-be38-5c2f53b5c835 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e30a784-1539-4663-aaef-12a14822ee7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4012951a-4775-42bd-b398-216dff20094b phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44b0b5ba-2270-4fbd-b12e-851330d92b5f phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2a49fde1-2c38-4145-92c9-8db2329b72b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b250ccf-06d8-490e-910e-1c023892ecd0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93b1851d-18dd-44ee-93ac-ed48e9e64d77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dcb708a2-c5db-4ca7-af03-5a74514d18ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:be7183f3-fbd7-445a-9fc5-8426f656915d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a12db71-39fc-4089-b785-63cff4e67e7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a548043-2777-4884-8191-a0b3df81fbf6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6bca578f-0f37-4ca8-8fb8-417b40a51a68 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:663c10da-0f80-408b-8b54-0acbe2dc26df phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4b060c4d-224f-4ed9-b89e-fcbf9a9aafc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f32d92ac-eed6-421c-82c5-378d24b8ea8d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36074901 uuid:7963011a-6a95-4734-8133-d88ef6daf5ae phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:9aca6d6b-6d77-4203-9876-d65ffbb99375 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f637e576-a1d4-48a0-90df-a54bda2c2ab8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4aec7aea-6b1b-4f4d-b391-54d0d9750be6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1e27c18b-300d-4e84-bbc1-fd8463996e77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fbfa4447-0736-4c78-be67-9f9104c4a69f phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e43850f7-741c-4344-a300-f8939ef53aa3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c9cfe64-714e-47f6-ad59-24f90bbe298a phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5660c5aa-08ff-4d62-9ac5-abfb4734e8a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88eea957-a867-417f-8047-8966e9afec1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1fc47d78-76fa-4ea7-a23e-75bce799154d phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b966c80-35fe-4eb3-b109-3e4628f131f6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:774e94d7-85a5-490b-81c1-c9854ce68515 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7b1319e2-d975-4aef-b292-b7499d9b49b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43234452-2319-4e36-881b-f58b11fc95ba phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26d63ec3-8afd-4a77-8b09-71815f7e3f07 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fed0cb17-ee68-49a9-a56f-75bb18107952 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d8c4279-b1ab-425a-9e38-184a2b491f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6bb7de9-9862-48bf-8c75-05abc245a1b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b7dfd715-f868-4617-8932-caeda72231fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:beda9db6-d860-442c-97a6-5883dcb4f8cf phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b29fb7ae-bf1e-460e-aa93-6caaba62fd87 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdc26cb2-e668-44e1-a6d5-d3cb9f8546e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d02e11cd-fe37-468f-b4f9-b51298c64b86 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70141bcf-091a-4a97-9e8b-ff79342679ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f58a31d4-baa3-485d-b453-3118f3d40a01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d392e7f7-1652-4451-b3c4-30996cb4d2de phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4bb5d4c8-3f26-4a69-832e-a178e4d12a2b phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:501a9473-f254-48f0-8332-2e0c003a0e3a phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9ac38a3-20bb-4f74-b87e-15dc9e5235e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b50133c0-89c5-470e-8440-9a807a619fb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6df800e0-c982-4d90-a834-f67cf2069e41 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88111c5c-aa22-4ee6-9f17-fc8269634db6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:be640071-0c21-486c-9f47-be14cc6d834e phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb8c1fd5-6d8f-4970-8798-521c3dcc5a2e phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1125cbc9-16bd-45fc-a30a-bd495487267f phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:3853ccdb-b1ed-45d6-8664-cdc2c7216b6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:158f8d80-a8b8-40c2-ba5a-36a33a8d97d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e85c36e1-88c4-4e46-bc0c-3b333e119c03 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0419c98f-b9ac-4fe9-a00c-5ba30c675753 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:44f4f1fc-2487-412e-b26f-e5d0028b2464 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e36a1e4-974c-490e-9aef-40b771b3ed7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:06e58b64-a274-4545-9301-c9b62fcbc1e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4dfb4b88-34cc-41d9-a893-c791083087f7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2f7faa3-4ace-4460-ab26-f0feb4c7cec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4977aba3-c53f-4307-a18a-7864d2080324 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7fcca859-1060-43da-8040-9e477cd0fe98 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2a2c8fe-180a-4e02-9b17-cfc528549ecf phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed73d680-970c-4d15-b5de-42d6596cf37b phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f355b97f-124a-4e48-893f-c60db39a0fde phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3536a29e-68cf-43f3-ab60-dcb9852edc44 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4e2ea50c-0d21-420f-870c-8e39769c501c phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73ef5279-e394-4f33-8840-be75b65098fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1b0c2a57-ed0b-4082-aaa5-f1ee12e91cf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36074901 uuid:89fa8df2-d40f-409b-a50e-d1dd4432401c phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:6b285126-df41-488a-8578-269305632823 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f57f0922-3ecb-401c-9195-44e96ac21e0b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fefc31bf-1902-4025-acc1-c5d3c12ae0d3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5e937aac-24e8-43a2-9533-729b27da8c3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:13fd1b69-42cb-48bd-b3ac-ab7de883b3e7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3905e5a6-081b-46cc-8ea6-23756ec47640 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3dc144c2-9c23-4ae8-b100-8b74dd0a4903 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f36c1027-5e49-4a24-9e48-09ddd0e9aab3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4d611149-188c-421c-a4e2-e6aa64b9d3a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bb03f18d-ffb6-4a7a-872e-695e2936da05 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b33c72d9-ae58-4ad7-addf-45747e258ab9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f00d5044-891e-45d9-9135-1174cbf0bf8e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2e217c12-77a4-4c05-be88-d1c3416706e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96d97445-e83c-40a5-8e99-f486d19880d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0e3ec2e0-fd10-43da-9baa-746ac20a24c5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:51c0ac7d-1bd7-4691-b6ce-5339bb590fc0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8551001b-00f4-4d9d-b51f-9346558f9469 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:daae5017-3dc5-4a23-9346-eeb249cfc176 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14e72b9c-7888-4c55-8824-c721e4472241 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77fa974f-2588-4075-a025-e8cc5fd7b1af phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e9d14779-8e53-4842-bb9c-599a8da76cff phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46a36b3e-6af6-4048-80b5-688be98c6b40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:95fa4b94-4e58-421d-8876-11a6d398fac4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a965b960-b245-4360-9ce2-b876ed44ce17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:95ec2cf1-6b57-4797-acd2-badf739cb68a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:35b66fb0-8567-4983-8562-a0f4997107ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f076817-9a75-4c7a-affa-4e60dfefc10c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:80add15b-27bd-4796-a92b-1d7f88bcc45d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:782c7e6c-96f1-41a6-9cd5-27d91d72bb5d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:18c2276c-d96a-4822-aee8-ad1856f90977 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdc2fbcc-24ee-4c49-84f3-d24dc1818c7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62bea6bd-018a-40d8-b3ad-73e665141057 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b1368ff-0b65-4d8b-b521-420699c8db52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8431b824-9845-40f2-a3aa-856356323f8b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:94809f0a-e606-4709-9ce6-fd1d17d6d9db phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b26fb747-b8b2-4e06-ace4-1fc57396aacd phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6c5bc6c-5c7c-4c56-9e85-7b8497667c8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14e6fee1-bd97-409a-99b8-52dc1e27d2ee phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5121df84-51ce-46d1-a859-8188f86470e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:18eec125-b559-4fe0-8a7c-647f1b467a33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a5f40d3-36fe-4dbd-b03e-5062279537d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dfb72f47-84dd-43d0-8768-7739e4191710 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:30e5b5d2-293d-4a3e-860f-74d00ec0117a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43942841-5fa8-40cc-aadd-468e389e8b99 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23a23dcc-ac88-4f6c-8401-5ea264ad1ed3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:75c42468-8937-4d91-9e57-14fbb71e8350 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3770641-c63c-4f78-846a-632b38f0158b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6ea6307-e723-493f-a62b-086c9ee3f7f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e60b742-e906-4704-9764-7a83e2dad16c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f8ff2ae-d892-4adc-abdf-34404cbec7bf phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e0151d2-8676-4c48-ad18-5199c41f8e5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2ce48ee8-8d3e-493d-8ac1-c2f2b8e3671e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b848168-1cbd-4011-a503-95b200ee47f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7daa25f6-6c6e-4b99-9085-d2d63481d6a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5f0518e8-54f8-4f8a-a857-4abc5d764eb1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23680e78-56d9-4bc1-83aa-2898f6922624 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26c3a514-f24c-4cee-9f36-06000037c1e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9f7c785-77d5-48cb-b3cb-75656a7c2a0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e41e9a3-d7cc-45c4-9200-a1b174d695c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8667a078-4a4a-4770-b46c-2d4797c0d1bc phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3c66ddb-291e-4c10-ba99-f98d15ddc25d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fe761205-c186-4f1f-89c5-fd6938c7b9b9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84edb95a-286b-42e8-84d8-4ff0af53411c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7aa74c7f-1711-4a49-b61c-d44e9fdbdedd phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2148c7d-74f4-4259-89c9-1e1ade73f1fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b50c84cc-2195-4fb7-911e-4b48eec11305 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3f159534-d1e2-442c-bc7b-0d76318e290a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9939ffe4-7d29-45ff-9a1a-b2411f82798a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d2139e4-716d-423b-85a2-7e84816360d5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2eda901-a692-4bb1-a411-dfd7f4a0c27b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:befb9919-3604-425a-9973-76611b3e646c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e1fe3989-5598-4208-89ef-04c64f611306 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:5957d8b3-b76f-42f3-bd10-6af034f8cbca phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:c82f49cd-2ff6-4147-9027-b4fb1e5f03f5 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33190975 uuid:19104c5a-766d-4388-9f17-c9da5818ba35 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:33190975 uuid:c7ef6d8b-0fcc-4f88-9b1c-ed07606caa68 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:1139a83c-95fb-469a-9272-22b5ed4567a0 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:d9f6729a-78c7-4bb0-aae0-bd036aeeef7e phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:9bc50f24-50fc-4cfe-a647-ea6ef73d3b89 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:97132b58-bc9f-4106-a5c3-700470f4a910 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:9026e43f-3fba-4f1e-95a2-4e23be5c7775 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:db65edb7-dcd0-40e1-8aac-58f9ee60551b phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:47e635a4-ba11-494f-9b81-59b6ca412b3c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:df074188-58fb-4334-b852-46310667a31e phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:16d79b2a-1195-4e22-b481-44b93ef07388 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:bbac0717-2711-41f6-a145-192c7a97aa46 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:a4c4cac4-b47c-4826-aa12-e447d75a39a4 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:75c58d12-67cf-45a1-aa0a-5b8fbe7cd2a8 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:3a77518c-a2f5-4ae2-a311-ef9c451a948f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:e30a4866-ab7c-4e27-951a-915f3ef8d7f6 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:194dcc66-0fa0-44c6-b952-73a098ecf74f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:62eeba9e-f8d4-4cf7-958f-7053162a755c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:00efb515-9203-4272-834a-8a8d7f582595 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:9d7a9ac2-5e4a-496c-9764-47d60b5545fd phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:dcfbe7ce-8da4-49c7-b554-096db10ea764 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:4b2502b3-0d79-4eef-bfe1-7e2bc60c6c18 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:622bade8-b754-49e8-ac2f-e3b1db6eb27d phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:5be14d6f-2feb-4556-aea8-af4791a8765b phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:320a6d71-0ced-49e8-8aa0-5625e566597c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d18eeea7-af5c-4b30-907e-2e114f0b8d20 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:fc097f18-d1ae-4bf0-b464-2d0fedf78428 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d43b36d5-d20c-454d-a504-4ca44621ad0f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:1134801f-9caf-4ca9-a7b3-23dcf47f4832 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:39e3cd67-0ff2-4e21-ab25-d5ff11c4b9ba phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d56f8ff1-9b3e-4c9f-8c07-409a29b6afb6 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:52e8c1e7-4efa-423e-b6d4-c368ddf729f7 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:33190975 uuid:5212b9df-4e07-4dec-aaad-c2c9cb068cde phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33190975 uuid:1c9e8d6f-ba76-42f0-9e30-40d365a75784 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:935971e0-076e-469f-952b-9f58aa968df3 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:83607aa4-e72d-4218-afec-14af8cd4c9ba phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:43608818-6e58-4f1d-88f8-7a51000055ac phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:267b7241-5ac1-4395-b8bd-6ebadbfcbe56 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0f68c7ee-a91d-4b4d-8df6-16c1b447904b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a674dfac-fd21-498e-b0c5-e67a9d66e825 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:3aea0a89-1390-4f64-b168-6a0334417e4f phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:5674977e-3692-4313-a33d-f2a280ffd019 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d4c4ca94-9ae4-434a-a021-ba5e1d255e28 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0edd80b4-aede-4ee2-84f4-2117365b39ec phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:82a2e668-cef3-4f28-9814-b5fb29b94617 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b993576c-335d-488f-b9bf-90af34b7bb35 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:98ad1cc2-30c8-4390-a693-defd5ad84f42 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:3dfd7c87-133d-41f3-ba0a-29070ddd0451 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e53393ae-2d7d-4a5e-98e5-2ab4b9ab211d phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:11774158-0eb6-4642-a1c5-82b1d5ac352c phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f910c1ab-d4e8-4834-9a09-0aa690d9ee1f phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:51497d48-4b8e-4db0-81c4-3bf39375163b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:22cbd50f-1eee-4639-8b34-48ff5450b815 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:35600075 uuid:e526bf93-04c9-4bb7-863c-09018dcf9fdf phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:0d0b199f-a87a-4f3b-9b9e-346eb1697947 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9e0e0df9-a2ad-441d-9180-1dc2af43a252 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:266f16a9-dcad-44c5-9d58-b34aeeacea32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:aa0084ae-f093-487a-aebd-6cd7a6aef031 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8f9a1fc9-f620-4b87-91e6-9853245b118c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5f59b58b-fa36-4413-9827-aed76605b9d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96d9ce1c-7ca9-4b4d-b4f6-2a0410d3635a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5813cf71-c535-4355-9cd7-fe0d6f49846e phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ee100000-7569-4baa-a5f8-9c656c1e0e1a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0f9813c0-317f-4f96-a344-9c6ac7cc8df3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:06e80d11-3206-440f-8a9c-f74b2781d260 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d962ce3d-123b-47a7-aedf-78c21c2bc57c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ea220e4b-7777-4e50-9ae3-f33a4c03bec1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:34d33e11-0675-4f1e-b717-2c07c64fba06 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c95780d5-9f12-4b34-819b-e6a8f4aeea16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8027e33-41af-4fa8-905a-fb7381c97797 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d9ad532-4fd5-4f79-9c61-7a4efa74ba57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d2a3865-b143-4da4-a89c-e67a8fe1f636 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04e0340a-cfff-429d-8ce7-cd3712a5a77f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2db075ad-6da1-4484-8a17-a8476f63cc07 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3045acef-bb97-4a1b-ba6c-8a40fbb6208a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:972ff2ee-62d2-43cc-b5b6-c68220268d1b phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7df12ae-ffac-4352-ac72-f21de03f69e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:56b7d43a-c5db-4ea9-8f31-15ae5b9dc61f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41409eec-80d4-413d-902c-b78114b588f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f2970433-225a-47f1-91e8-9562bc7ce741 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:82724caa-8b5d-499f-8298-91f1c6808fb3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:563b6b1f-0c94-4902-9b99-5e0965c79028 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f96a5f4d-5db1-4017-9193-41a5006d2453 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f99ce15-a3c6-4cae-91e6-c01e6c3e42dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e3081d89-1010-4b33-80db-c24975a3dbd1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41f16908-7618-4ae2-a0bb-24f36ec1e245 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48fb218a-baf8-4cc8-8cee-fb0e624b70d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:631808cf-a316-4896-bfd6-ba560aab684d phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:459b28d6-2707-4d60-862a-80d3641bd3d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:981a3bfa-618d-4a70-a97c-c294d81cfc9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d5b738c4-bea2-4322-b91a-c3611c5043c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dae54255-a622-4054-844f-458411e757f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c384b0ed-4874-4ab6-88e4-3b46f219b50c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c8de6dd1-dc0c-4955-99e3-959b34372830 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f5470063-9d6d-44f4-9967-5c4de4415efb phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4abee694-2452-4c72-a90a-59408e9fd3fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aeac239e-ea68-46b2-952b-9eb89703f5d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f3b1a6f-95b8-4855-84e8-694128915a25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:170c1469-2fbc-42a5-93f4-d8a9491526e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a58d96b1-2d54-41e1-ac24-87667d8f8e43 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:254a8815-926e-4c5b-a30d-fe565d30ff4c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f498d79b-0adb-42a2-bb80-638eb9bcd059 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e5dd1d64-a909-4907-8325-38604a3a8ad4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c97103d3-ef53-4b8b-b597-eb2cdb431140 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:071cbe5f-9472-45ac-ac55-f35729e77b7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9355b00-3d26-417a-9658-948fd811505b phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e3444968-06f9-4472-befa-1fcd4171af84 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1fe52055-7162-4bac-9302-baf6e0fce844 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d7e3d197-36c8-49e2-9003-fdd3eb2dd5ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2219fd0d-c680-470a-9939-9dc0d8c0ea45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b97f648-58c1-49ab-b530-6512324f97b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d958f00a-ff3b-466d-b449-3fd3c100a745 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:815b7fe3-3dd9-41cc-87a8-a4ee650ff0e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2decfd0c-cf83-4ff5-a424-21f1a4d11883 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:99f91121-5a21-426b-ba58-b5564e9269d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4b1dd1f-c8b3-4f12-a3fe-85b0b05a5282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad6c017a-54f1-4dc3-b482-1f2a30098d9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59d51e53-cf18-4639-99f2-31e7487dfc3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6dccea44-94f5-4bc5-bf91-0d9a730536b9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1779f7b-3682-4ac0-9e5b-3a2bed229881 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c44f342c-993e-4ec6-a596-ed25a5592dc9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:131b208a-fb40-4441-b3f1-f338a98875a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b6ab8421-32d3-4ac8-a462-7605dba40ad5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a9220e1d-696d-47ee-9254-4b5506c6d542 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:956a30f5-7b93-4ba5-83e5-01fd2bba086f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b081fe99-a0d4-46e8-b4de-19deaad22521 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:36074901 uuid:cd22d029-f20f-4961-8fa5-b8f38cbe9491 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1244800f-3599-4aca-9b14-83cbcd8df72c phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ae11f078-8a9b-40a7-9f2f-d3207424f0db phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1283202a-171f-402c-8469-1233a0c292a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b58cb187-8ce9-4585-9f57-490fdc5a07b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:72dbd4ba-5576-4954-9335-8356977efc3d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a4dcead4-f04e-4f94-aae0-197f3ff29f73 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fb2ba58d-8a99-4c9e-b51b-b0400c413eeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c0961828-a1ca-4999-920d-cb58f4c72e5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59248ff2-673e-41c8-85f9-20bc982bd27d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8138909b-9137-48de-86f1-91460047522f phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fdb1730-5301-4017-96b2-2070a8cd8db8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77d0fde7-0fa8-4b31-9d51-0669ab3468f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:336346d9-9e72-4118-b9ed-ded4c44204b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a98fbe2b-324e-4653-bfc3-26265856b81b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15a70f82-5622-4757-9ca3-c760c7412dd6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66e356ee-5218-42ba-9799-d8470b75aa45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdb3063b-4fe3-470c-bd05-554bad2e9a10 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b04a9127-f484-46f9-8d3b-4e6e8e70d787 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:242cb1bd-7df0-46aa-8f2b-422e05168bb0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6468078-0552-47c1-89f9-889ab1359b97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5bf19922-a0e6-4ebd-bdb9-37056cb3e742 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c37f745-5c49-410c-92a9-0ac382060820 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fac2a3b-11b7-4926-a8f2-185d7118ec16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34781280-ebdb-48c7-8bd6-d25398b4f3f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10a3d67a-252e-43e2-8715-6de5090ee5cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd7e18d4-b42c-42a9-bb43-7d042d0f7930 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d20e47ac-b7d4-4e32-a2b2-f2edcee424dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:373ab22d-4d9a-424b-85c9-c421bf7778dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0008bcea-0db5-47a8-9ae5-2b3a06339f31 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd9907ea-dc7d-4c84-8fad-72602c31bab2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf93c3be-0f3d-42e3-9d34-8fa71455ec0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2ebf4fd-ac7e-4966-b6c6-689389be3dec phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:552ee3c3-084f-469a-a9ae-361829f8dfee phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1e0a08b-5d78-4bfc-ba5a-edee32afcda5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9e6a215-902a-4069-9deb-90759db93a6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2483f98b-425f-4f5a-8bf2-aa7570a92a04 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91d86de6-64cf-4585-8844-0991890363d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64f5f82f-680f-4cb7-878c-df8a10811521 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66914e79-acdf-4994-9e15-86fc27012e2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:015b28d2-7ec9-47d7-b33c-43d1f251b4b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7c2f3f4-22e3-4e9a-b9ac-514b1f7696e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ab11e46-4ba6-4641-b044-6d57c4ebc889 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d82b6f9f-debb-429c-9bc0-f54516f2b133 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ab91290b-5edb-4d57-87a0-0253173fdeb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1238914d-85d4-4077-bbc3-9cdfa85d28af phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:898f1f37-de81-4556-bd38-9030c3b2336e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eaa47bb6-f53f-4860-ad8c-57eb77754f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:affeda19-0027-473b-b7ad-9dc16892b04c phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e4edcb1-0ba3-40ec-864b-99d59ac1e5e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eeb63fe5-ac8e-448f-86bc-45c0ca2e49fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a5c85fc6-56e2-4f28-a887-ed87672269f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a5fc7a6-4bd4-438b-91a2-32d771260a19 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9240ff1-f76d-45f3-ab93-7e768fef2c36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8e7167f-d2fc-4b33-8e1d-064f478753e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93690db0-eed4-489e-b341-75e1310c2f8a phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb8a6c86-cbf3-45c6-8816-602e39667ab4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ad75061-543a-49ef-9c91-7949360f90ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4162da8b-c9c5-4170-8466-67725efc5276 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8b150eb-83ac-4a25-9e6c-3f8f720bdb9d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77c2ee92-95f5-4a9e-999a-195eca5e9bb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f36d05e-f2ab-4a90-b2aa-6c027e350c83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6af0530-28af-4fd4-8aaf-11546ea58598 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:68440471-3df5-4020-8c65-d6832b77100b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2bed2eb-3ab8-4872-bc39-0668c64bf465 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9f40d3d-b6c8-48df-84c4-95ad4aa88811 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5522904a-b2ba-4467-b923-f9f11bd838f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fee98cb2-5332-4d2a-9772-c9c9a508d5de phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac9e713b-ba0d-4550-9883-cd07b57fd3a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3cd52c83-8036-4b32-abc7-0f3d3cc03b3b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c040691b-f24b-4e82-8125-c1153befe8ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:3c2fca36-1ccf-45ca-8d2c-35461a42ef49 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:bd994642-47d2-47c0-8466-e1e0bcf776a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c758fbe2-8e09-46ab-bc0d-e8bf8fc737a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c15f77de-3d30-4c0a-8056-df128e868029 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c35ea8e2-8b15-45ca-8b89-c9d5bd0f2ec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b5dfaa3b-09fd-483e-99ae-d0e34c3a6618 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f388eb17-8845-4a84-9acc-5f797a03f2ba phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:88ed9dd9-8188-47e4-9952-23e4128c9b8e phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:59bebb98-705d-4364-8eb1-a4383fe17054 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7c210625-76ef-4f0d-9eee-04d952337477 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:616caf33-bbdf-42f7-9ebf-9caefd04188d phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:daab0e64-0112-4a48-8d50-30f9870c882a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e28e86ba-cfd2-49ab-8089-bffc7ac25718 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f1aef308-979f-4395-8455-fdf54154de18 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3c9362a0-a54e-45bc-ad27-a1fe023441b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1542067-53d5-404e-b2a9-586de1ccbf23 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:456a0258-3212-4587-9401-90ea094e6d1f phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38c991fd-8053-47b7-ba89-c0894d8903be phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:550a35e1-7cb7-449c-8a01-7ddcb62c7cbb phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf3163d2-5bc9-417b-a00e-7ae20a60ba8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64c43f60-5c26-4893-8726-576119ec41f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d4a4e00-7998-45ee-8d4f-93daf039443f phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd079540-fa94-40a7-8ce1-2ed77b8527ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:203cd923-198f-4508-85dd-ef5bb1e46855 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b2adf3f9-bb4f-49cf-8e64-29ef7e714476 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f97c52d2-2910-4e6e-8d8c-1b12f38fb799 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:40e6f6da-a5d0-404d-8267-d6d234904b4e phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5a7eab1e-3daf-4783-8157-c296e8ccc67a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37b6a387-de66-4786-84a1-244d50a086ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:917d2dca-2c4e-478e-bcb6-baa6d63be4a9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e833c387-26f7-4b22-86bf-fdf54c244136 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d912907c-2020-4aae-a8d2-6b31c069f5ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7db0786e-d720-4b39-959a-5927c721060c phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d9a5050-0db1-4569-bde9-bf46e96a69e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1a833a3-4122-4ea2-804b-f1d1099eaa24 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6fee04a-2924-43da-8794-081d3ee0c994 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c865272-c4c1-4fea-aa08-79b21b9857ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d4f759f-f080-4395-bed0-7f03c9f5f3bc phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d64b55d8-8e13-417e-b4d6-ad4566fefea7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a37191d9-6ac5-4321-89a5-04e2968cb258 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8edf71db-d659-4fa4-81db-65513245e5b8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34e7f261-91fd-415a-90ca-b30017bb0eeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e31760e8-ee6c-4fab-9ea7-38317c0b03b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5379d3d5-0c03-4645-905d-00765517831a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b1a065c-2c03-47d1-9e59-1416372d0810 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:86e27b42-80ff-4662-89bb-f5d95a3d545b phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:36395c11-62e4-4bd7-81d3-c9554cad2114 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c55a6bad-bf1e-41e2-894e-39000909cae0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a0d6422f-a088-4f70-b7d1-b2d5529d4238 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1119e4af-fe04-4517-8edd-d7e3cc4b2667 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:113f3aba-545a-49cb-a234-2f559a0b5b5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f36c220-d130-4812-bf67-9ec124a1c7c7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10687d2b-39a6-4d68-951b-ee2f13ffc1a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af39d63f-179a-4aae-b982-196df5c52e5a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6cbadcee-1434-4d3c-a7d9-5f03a4154a5a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:348b268b-a0c9-4d4b-92a3-048f0252110a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:ce8ed79f-cb99-4c8f-bbae-c206763e4d9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 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biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:c67817fe-68fb-450b-b344-a0d409a2d2b2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dbbf9179-7d09-4ea2-8f3c-262e6149755e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:6419c50e-82fb-4ea3-ba0b-3ff22dd0794d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:bb568f4f-5e88-4efe-9d79-ef817d2ea3fa phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:6b2f7ca3-47f5-4e31-b363-94c987c31e5c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d0604dd1-311d-42b0-9de0-7389b57b987a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ae2e8060-3f4c-414e-9080-a26e6d1da01f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 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PMID:35600075 uuid:0b24b237-b310-43ba-a0a6-e8579d078004 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:2defd6be-2106-4986-9f04-2bacb0582c14 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:eade80cc-d3b6-4bda-9e32-f7407267fd94 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:57518de7-b8e2-473c-9291-0aa3848a6822 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:2f456cf1-b9ec-4096-b90e-ec857fa5175f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:f8d15ed7-74a9-45b2-9d68-1f17eab1e42c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:9ff7eb63-f00a-4d36-85d0-887f12238547 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:429e8714-5f66-4127-9c91-7411387f392e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dd1d575c-da2d-4bcb-9614-33e5b92daabb phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8e21f3c1-08d2-4453-b69f-4d8007a990a1 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9d5b5ec8-2688-488c-a678-c35ef737c73f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:36604216-7b49-47d3-8d4d-432130129f4a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dbc70253-7ed3-41bc-a291-8808770c2a5a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8110edd1-ee32-4abb-a6e6-060d7f36a0c8 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b120b2e2-2483-4f38-a109-27592b25fd60 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:90270ace-1d0b-4335-b7e5-819d2d118693 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b2c0e636-5677-444d-b522-924dc3cb72b0 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:65d0aadf-1db8-459d-abd5-42a843800b0b phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:0563e181-05fa-419c-bfee-6675b4dcf722 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:e5c30c7f-0dac-45f2-9444-fe5f9b68e5d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fa437e43-8b1e-4750-a424-ee8bb0d08fca phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd4a7f8c-c8d5-4b1c-ae49-0cd5cf27e5a6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b0bf54ce-7b48-4771-b6fa-98d63df2f110 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c7c3cd8e-2a46-4828-93e1-073808f09d50 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5dfa2810-3f18-4e7e-8646-0856c3d2dee4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd441a58-4de1-46e4-8519-ae88a67a1630 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8081d020-9871-4d3d-9653-16df0c2a5d74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6641c71c-4a05-4a2f-9f84-5794ab92182a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:271ef3b4-fdcc-41cb-b7e3-4b9d29e0f51a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:af99a332-46f4-4578-88fa-99ecf42d2ef8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fc3d9ee2-92da-42c6-9c09-625d8ceed3f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f69cc19a-bba6-42bf-a273-4b44e711798b phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b938a58-39a7-4a18-9bcd-1772e1c6d053 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b73bfeff-7fa8-43c3-b7c0-d1c45ee92e52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2969c229-6166-48c1-8119-b32c81a5605d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:71398302-96ed-458d-9e23-a50e6b6dbae5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0be96af3-d579-4c07-8f91-187e6c83779f phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2194e79-63bd-4d8e-abcf-20395b91cfc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c0269f4d-d985-4912-a56c-f664a1fb09e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b615654-f7c0-4981-a23b-419417366485 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aba0cd32-23bf-4065-b430-7495ca804015 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aca68fec-379d-4fbc-8047-e08600b29f25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e645c029-c3c3-4745-b305-68df13a27d9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:346b30e5-759c-4f92-9438-e904ec80ff30 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a69bd89-29ba-4339-9a36-972b721c7dea phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:81996c8c-10bc-4eb1-9f98-281b9587f4dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abf40b3f-b0ac-4f52-8be7-65380a8e419a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a503bd9b-13b1-462d-b137-661a2f7bae57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2138d3e-08d6-4b10-8379-7e7c815b1216 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a72c13f-b5a1-4925-8b92-ff81ec5ce748 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f76273e-dd25-4b5e-9e25-30c33ab13ced phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b99968e-32ce-4a14-b745-719315b3aa8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:438faa72-bf52-4ae4-a100-381575890de6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c3d970ff-7350-42d6-81a7-54528706c461 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:42be7a98-59ef-4205-8a3f-b38d0d781ccb phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2dc5845-e4ef-4409-969b-924b51b685af phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:824eb648-2c3a-4603-8dcc-aa498574cd7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:203a37b0-a966-4130-93ab-5ed795ab1d35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b56b9c4c-796d-4ab5-b512-028c63036e1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e545b78-334b-4c16-a4f0-309180abde92 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b422926-fb2f-4772-800c-ff14ea7bbb9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f18d1e-a991-4d37-88eb-60a5a8b79b97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ae90775-9e6f-4d19-b323-b5b4f0dbf11e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bee1668b-9080-475e-b615-2a0a15a0ba42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:90a723f5-992c-4b9a-b0ad-6a0719f0194a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:683f18c1-2a1e-4e20-b66a-3ed631d7beb6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:42d195e2-e723-4f61-8dc2-94091f215a55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52f95487-52ba-4af1-b4ac-53cd9e59811a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af9a7ad4-a08b-4fc9-aa1b-7c5c25f7a2d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:909f0ec0-7a36-4fc1-8d13-444466c0018a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:119fe2ca-a632-4283-a8e1-3a8b3043602d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:65d07e1e-e5d1-4336-bd91-1ad1405bdf87 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0055a599-04dc-4e57-9b95-a4e5df4db17c phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:518161d9-0df8-4694-b6fb-524b19b58ea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fc000fb-67c1-4594-aaed-432e8ba2c403 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f24f80b3-3d75-4c30-ab09-57216ebefced phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dbfb142d-16b0-406f-b961-8da17af5d9f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9f772ac0-af49-438f-9ca6-4d4f3f1fc3b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3f61f1b2-e6c4-4015-aa6c-1a0f5a36eae3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d2ccb75-87e2-4a9b-ae5d-73eacc139735 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed8e3253-f9c3-42e9-9ec9-3b7442634c95 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:35d4ab4e-9520-4d31-b9a8-0e124752b3c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ef39e4b-cf43-478b-93c2-e723e74d0bec phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf6186ff-2263-4941-a686-82367abcde08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e4bfaa2-8ea8-4aa7-8be6-aea7f9c84fe1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:57605e7c-ae41-4933-af9a-baa641a2b4e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ab8fe7e-1c9a-4947-bce8-c527bbaadacf phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7048002f-f217-45a4-92ac-dbd451e6a242 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37313897-cf3d-49a2-973c-faf67800e7ae phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36074901 uuid:965189d2-1a64-4402-9a6f-56c3736b7390 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:e090267c-963c-4bd4-a1b1-cd5ca342bf69 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ebc35aa9-17a5-4d28-afcc-14c15b319630 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd30dd75-9173-4edb-8ab6-0ad02e7bceea phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:00cdea0b-0d4d-4678-9f56-0cd099943005 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d899f2f7-fcf5-4b02-91aa-6710ef137600 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:61cd207b-cf6f-486c-8d8c-febb12492f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a148d4c3-8a08-48d7-b354-d9e69a2e4564 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:40974ccb-4090-4806-a32d-0177d46bece5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:086e6235-1182-44ec-89ca-55a667f19c8d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b70bb0ee-a85b-4090-875e-2b3dae46164b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6dfbb1de-efe1-45c5-950d-8b14bda346c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4074d03a-6e6c-4402-9640-6416454ffad4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:df842e21-fee5-4841-a5d8-7105eeab1a71 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c6831465-cee0-4c0b-9df6-75eadf3b6260 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa402532-79b6-4874-8e9c-c776fb0b7234 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6cd3306b-dfe3-4fb1-ad5d-720e620bbea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72a02518-2e65-45ac-91d2-a1d967030b75 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f07bc165-e748-4e0b-a748-42abcb8c754a phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e01253d-c4b1-4b42-a57f-393400880df1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38ada319-a945-405f-b004-e283578b780c phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2010f17b-5fac-46a3-94ed-32e5cfc1be48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c25c9f52-b96f-44f8-a2d4-124f4d977912 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bb721ae-5493-462d-b93a-fb0add61d402 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2441be55-a861-452c-b8d8-3469226ba185 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7f83c21-01d1-44ca-b5f1-47d4fc679bc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b736b735-c359-4916-9aae-0d33d14e89ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e304500-7342-41b1-b093-c369b1a87412 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b5d8eeff-0805-4a2f-a848-2b1e0ef21b7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:863ae469-91be-4e4c-a13f-8909094c6b32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:283baab6-48af-4181-a1e6-340c28726483 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64a1fd14-d4c8-43da-87bd-490e06d3e238 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a46cffc-f69f-4ae6-ad88-d3b84e94798b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52cdcb92-f722-4c02-b358-dfc784945c09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb5d185a-30c1-4e23-898b-cd3e94044dcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46fe4545-378b-4fa8-819e-889dd212fbe9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ecd6c2e6-6262-4ec0-8b77-a0b601d98b3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:542f5c70-ef6d-4ec7-b402-a73075e106b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ddd4a32d-5948-418c-b6b7-0a8cd5e855b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:531f1f40-29c2-4f1c-8ec2-6dc2023e9e7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48c8a790-e3c8-4389-a3bf-35949f64a8ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b7960690-0fbb-4688-892c-8e8ef702a180 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:55691333-34a5-4c8a-8760-0e792de44ead phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e54bd887-8237-4388-9d62-5c0cefd5db2d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e4c03172-b59a-49a5-a6da-2b876197fbcc phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66cfb681-b075-46d3-8a32-71e88fe0c8b7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c5bfcd4-2212-4454-8fce-a8223b13947b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04be135a-7248-42d2-a4b8-724f7bef376b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d471fe2-faca-4e23-bfff-34ad58b89c3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c325c6cc-2e5e-4ec6-ad2c-e1171784ae04 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:360501a5-1cab-41a0-b36f-aa561ca5d2ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b9ad7d5-8b1a-431b-bc90-2fc30d9be892 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:faac96d8-2d40-46c3-83bb-53e9f247cd43 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ee84ff5a-5474-44c9-b1bd-c4393ab2d2d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5c41300f-5213-420e-9682-6be10842604d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:122d65bc-19a1-4ccf-9f97-ab923268e52f phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02978d55-8efe-4c4d-8541-8fbfcf7d1684 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb3259d0-2b3b-48b3-bc78-f14723067ec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89c5d331-677a-4207-b5c3-9f3e7b9a4d0b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9837939c-63d6-4233-b24e-17065bf223fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:619a8f98-ae4f-43f6-b714-c891b2e3362a phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f12944fa-d86e-43c2-912d-c2be278fdeab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9096826d-f23e-4e26-8b78-f968b6a009fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6850d46c-a3f5-4287-b488-492d28db4c54 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e1fef8f2-dc5a-4c50-b8a7-4d882b56de70 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b4e43c5-6ee6-4ffa-84a4-0ace2958d3d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63fb9fdf-fcda-409a-847d-df75cdbe4536 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b484f28b-f31f-4981-8438-760eac203ceb phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:24d5b6c0-a793-4bda-8cf3-b22980699dd4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41c65cc8-c5f6-4c7e-b9c4-efbbeff2ab60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3edf6cf3-0d3f-45e6-86c9-fdc1d74f868c phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c015b9d-4a49-42ac-ba87-11afd4282f55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4203e67e-b022-4046-9797-092ba71d8537 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36074901 uuid:f78a9562-b9f2-490d-80de-460fd2ac6be8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:04750b0f-f575-438f-ba04-638b7f8ec23e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bf011db1-3c1c-414b-aff8-ffbd8495314d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5b29aaa4-b32e-4763-b969-4da9ac0c8c89 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:db648821-6777-4f32-8692-defa825a5561 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:458b573f-d215-4d5d-ac24-d6e032dca7d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd62d618-a107-44d0-8c28-cc8b933b88b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:123eea5c-7aec-4323-8e64-8e5f9e2c6b35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bb5dea5f-ad96-428b-a509-d49d2b9ae68d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd5fd660-22e4-4233-89bb-79fb8f115b96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:854c61ae-7092-42e3-913c-d73913cd3885 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:561a4446-d10b-4f2f-b93d-07b8830b13fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f904ca9-f79b-405b-b53c-651c3fdefc3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91dbc953-3028-4ca1-9861-a705e59b80e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:11c3ecf9-f6b4-43ae-ac7e-955e8f299261 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:552527e9-25f5-4b9c-bda6-f207a850cdcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10594743-2e4d-4c67-b0c1-f4433d5b60a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:21e683e9-2c02-491e-bc1c-62a8bce2ee9c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cef48be4-679e-435c-8ef4-5e3b1cf8f792 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:331b12fd-17a1-45db-b0ac-8a01fb3b0829 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84322180-048d-4dbe-b52f-bb78c3684ef3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ad5aa31-209b-49dd-ba6f-e11303fc0862 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7d1460d-2621-4f7f-8c26-544a530c18c5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2ee5711-fefa-42e6-9cbe-a9d98ac3a029 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63c15d29-7230-43d0-b84e-1ae715f3138e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e97f221b-f6be-43fe-b37a-878e4b527c1c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f444ba87-530c-480b-8c9e-4dbf8cbc5cc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:afb601dd-465c-4f59-9ff4-a87183d28d26 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97fc099c-1229-4796-8da4-973123d46f50 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:804b532e-7bdf-4e5f-a19d-16e76dd07236 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:052ba5a8-a004-4142-8a3b-bae2da881f09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b8219e3-01c8-4daf-8759-2677450d3635 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5669627f-b0ed-4431-982f-9cec4f6cc132 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:32bbb46b-cf5e-4601-8745-430304bcccdc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d5666a0-2509-473c-8f35-c8e3daede61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d4b0540-e88c-43d2-a99f-43509abd9763 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aac689f0-6afe-4e5f-8863-0506b8641e01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4c7103a8-4d0b-45ff-9889-79643f9afb18 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6756f6d3-040c-47bc-ba05-1b8c30322fa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bd9f464-bbb2-4d52-9459-c36bc4a1645b phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:69450b1a-056f-4155-8012-6831a0460e59 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f700ada4-1838-4d6e-bfc6-4a2a5dc7a6c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ea0275b-d97a-4f16-9fc5-41efc2b3a35a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c0f7a52-5197-403b-9478-8ac7e12b1b78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ef90ec45-a0f3-41cd-ac93-c1640b670241 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e425081b-6774-499c-a5ce-65fa2a7fe036 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce0cc056-d170-4593-bbc5-9bae95cd8b9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:186edaf0-978a-4175-a575-b49040f8280c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a86a538-f711-4664-bce8-d445fae37ce4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:714b26c0-fe10-46e8-8817-2e6807970254 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84f59f33-9d8b-46cb-92b2-9cc0e8f54d1f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a1aec7cc-308b-45ec-b2ec-d3f8592e08a0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8de11e6-7fa0-449b-a894-16c4fb82dc00 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31f20bfb-f494-45a3-839f-b9847336a3aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f43b592-7693-4413-a7db-fff23a59f568 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb0a5db2-7592-4495-9fe4-c766904ec3fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1de9cf1-581e-42d3-98f6-f80f0814470c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:54f35073-33ff-42a5-b3fe-9603eeb0bdf9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f574ae-ddc5-4db2-a41f-254deec7d3ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f88dce50-44e6-473d-883f-ab9d91c6d695 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc71b5de-6a09-4ca4-a70c-11b7b948fd2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e5c2bf6-f6ab-4ddf-bcea-e712a16cda29 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48de17d8-48a6-4e63-ac52-2c061551a61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:74895846-0ed2-492b-ae29-8f75bd7824b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd642408-fdbe-4267-bbf0-79e677d482c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c4563af-ef63-49be-ab51-0c78f23fcd74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb65cca1-6f7c-48f0-a696-5c70a567747a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8d9c4336-074e-4aef-8d62-d48604490f58 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d18de775-6c7e-41fb-9d74-9a274382e34d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf4b3a08-1b39-44f7-ab43-18965387b217 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f1e634ba-74f9-4dad-9f7b-7f8b9fe1a30f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f9442787-ddbb-48e6-ab61-868b762b4888 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0ecf0e30-260d-41e9-8ad6-892216b28a17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:819df59b-189e-44fb-bec0-0775c05621e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:36074901 uuid:3abae922-e522-4d2a-8c81-73c639d60fd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:9e8c74c0-fb8a-45c5-9337-a8d06da6d197 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:dbc4b638-0cbb-4aea-af67-e3c9d2fc14f4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a435af83-5c01-4471-bf5e-8b09bfd70527 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:54be8922-8f77-445e-85bb-a7edd04c3338 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ac322aa7-b46e-4f79-860e-1f02b01c668d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:1eee0cd2-3f52-49a8-a49f-745c4ce9ec2e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:fa9b5b6f-7c07-4e8f-862c-75c538ea51af phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ec4c75df-049f-4603-8177-637296793fce phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f82c205a-b298-4d68-868c-2da0d7b65586 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:5358f8c7-2f29-42a8-8f60-9028739677fc phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:05e2aa11-2212-4b57-aa7d-5f70c2c0aef2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0248163b-9c62-4e81-8a5c-e6f963c241ac phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8b58cb7b-eeec-4c45-bc53-5ac4b8e271a1 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:4ed149fd-3588-42dd-b0fd-b88dba8b7ab8 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:77cd7cba-aa23-4c92-8faf-b513a0917be4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a3344816-8d45-4da7-89ef-5fe17aac50e3 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9a53b7a5-d168-4e6b-9c6d-ffc9138b970e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:99b14ba5-bfa0-4d52-8ddd-93f0b18cd8d9 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a4614871-316a-4b12-b3cd-7b699368eb11 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b4ecebf3-6acb-497e-a6ba-3d1fbb3ab0c6 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:0384c86d-eac3-40e1-b1e9-7ee22738759d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:d0234e21-f0bc-462a-b984-d82bdfa00e60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8d58f84d-d7a5-447e-825c-a7e7aa709082 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:852e74b4-e906-4312-85ad-7d2b9afb4db5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:77f92bd1-e59c-404c-a850-d82c27543254 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:aaec6b05-8aa5-43dd-8fbd-e4576f658249 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e1ccccf1-80c5-482a-965d-fb5dfc75ec35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d74c0d84-74a2-4587-ad44-10ae3d256ba7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9377ae9a-9289-44de-9fcf-7adaa61e3cad phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fe321006-86ee-442c-825a-c38281d7ce6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bba5bc10-1bfc-4679-ae6a-f226b7bd97a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7cbace20-6c90-439d-b872-5efd0cdd890b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:09f122a3-71a6-4f34-917b-6b8d4d56e3e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:644144ec-d0fb-49de-8a0c-6c90bd5a0290 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fe545586-261b-417b-85a2-1d23b70ae3d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e5af2f6f-3fa0-4cd2-872c-aa30f6e6da96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac547691-fdc2-4629-8885-058a493152fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:202a1c00-12a5-45e8-9f26-412cc00757d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:170c4a86-9908-4b7e-bc63-a7ba5162c573 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ff42447-6879-41f8-b3eb-5aed2df01f16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4a674d3-e57e-4cfd-ae53-306e73fc6e39 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a915c358-85c2-4341-959c-1ccdd344f64d phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:821b54dd-0424-4223-bd55-04702aa0ca69 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dffa2456-65e6-4c1e-9743-daca9e234023 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ea5f1bf-185d-441e-a613-dbf4f2d70c25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c158e205-a5b4-4f44-bb6f-717145507e63 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:20e86e9c-cd19-4ede-90ac-86965776c8a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e762e92-443e-4032-bee2-9dbf8bc49b41 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1acad7b-e6fa-4d4e-a41f-556090e0b909 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0143004f-148f-49db-8cea-f4c2623ebcf8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26b327c8-0b57-4ac3-8533-bd52768051ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:574611e1-e240-4bba-bec0-947efdde8474 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:78186ecf-329f-418c-b8e4-55645e3bc75b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5581f5b0-2648-40d0-bf7c-dcd994cb57e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:07e1be10-803a-4ca8-aec7-47929da871d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f4a89ea-9009-4f4d-b57d-8ce3f53f514b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5d52c8a0-cf52-424a-b3dc-53afff33de06 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:19c03429-32fd-4ef1-84f3-a241bbf22179 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72c9c492-1407-4656-9e92-a7a3a6355e22 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9bfe17f-8658-4026-b1ca-26b292a43793 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:286b8186-ff10-475d-be9f-35fc4578e255 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48045532-b903-440c-a4bb-c19e0d37e350 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:662e0da5-b9cd-49dd-937d-f88e863a7bc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4b4d7d40-1540-44cd-a546-bbe0229cefa3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:063f67d3-4382-4892-b8cc-58412d3f6e01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9e2ea14-4090-4ccd-8e85-dbd1de9d602f phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a63c67de-bd37-48b5-a016-30f41ff803e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31ecce7f-bd9e-466d-aa36-7eeef510d550 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:50e3ba3e-307f-4c4f-a7b6-d844157613ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e09c7a9-374a-43ff-b455-8bfc2fe0c74b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc98cfc4-82c6-4c65-9ce9-a57599bccfca phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a217af08-2e17-4bc4-bdda-a7507cd42bb8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d445c15e-9a87-481e-8616-70810e7c97c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2e3b5a7-aa64-457b-b6e5-30d70cd6b4b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70eee663-f1ff-42a9-97bb-fb3902154401 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dab9a2b9-bb86-460b-a5e8-9ca2b1b502b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa877bf1-6159-46ef-885a-46eb74f707ca phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b5cd3f6-ade1-49af-b22f-049ac7464d91 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:064cfe40-2633-4006-ba49-effcec440bfc phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6b4dd55-6135-4779-b427-3c62f4c2e8d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46ffbf40-fd26-4db6-87ab-235c55f9bad9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:598aae75-da12-4530-9658-c5db6bca5a57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44b49a09-03ba-43a1-b001-00fa2f12b3e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f89c5c27-67d0-44c7-8003-a449eec5c4a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16f8e6fb-073f-4d21-b4d3-845142e57b3d phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f88b1e56-0a7d-475c-a2c6-c1e582c76748 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d1bcc51-1edf-4d56-b326-02b3e746513b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:27c6b350-be8a-423d-881c-67f876c0a356 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c125d2ec-df55-4e13-aec0-2fe5dd63db96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b6ed3754-1cd1-4f58-b7fa-264798ea7f52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6ade771-72c1-407a-b190-d0ae43c8ac64 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9456ee23-d8ca-4db2-a57d-f86a777bba79 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad3add23-aa11-47ed-ae06-dda3e016424a phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36074901 uuid:f3538ddb-d5ea-4775-b4f7-57d1fb2fdd08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1680e72a-4a16-4f87-bc7d-c2d9020c98f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:30c23f26-7467-4e9c-a5d9-3c39175ae919 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c1107a7e-5a85-491b-af3a-2cc5775633f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7a1defe4-dbf3-41a9-8d06-12e7e1f21c2f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5b025744-7c9b-4aaf-956d-90464eaf03c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96fd5055-b404-4d22-92db-506931ffe9e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5e8dc481-ce4f-40b3-acb6-160cce80c9ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2038b9de-fd91-49d9-85ec-eb1cebc3d707 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1a6d6a49-72ea-445a-9f4d-8d4a9ea32df5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:14c101ac-fbb7-4675-850c-f8abaf3c4f97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2c09684-e1fe-40d0-bf17-f7dd271238f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92ba5ba8-a8b9-4a4a-9a9c-2894cdfa489e phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d29755b8-03b0-4b1d-8044-d3b7250a3c0d phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0ffd86d-974b-44cd-8c46-c375a326bb8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9ea4db9-7538-4d3c-b398-05910568d267 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dbb189c6-d7b3-475b-92f4-f09c94b92318 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:96ed3e56-6119-4bd9-bab9-9d67e464cc6c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd0d70e1-6b13-4426-8d42-893b0073914b phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cda43a33-c4bb-49de-8d79-a1aa5d64b418 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6eb7bc8f-3706-425e-a30f-62cde449a7c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:caaf229a-9bb3-4574-91fa-b22dfff51437 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3cf338b8-45a9-454f-9bb4-74c381af0c56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02ad8f2e-39c9-497a-82c0-d1f0aec7a83a phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8cf1ddc1-2b2e-46a3-829b-1b344acae91c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4bbea694-2219-460d-a9c0-5968d634cc40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b51733cf-4f4d-467d-aa14-8cdcb9e0b221 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:530e0979-a156-4495-9408-c7814e4782ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2e7a05ab-057d-4a8c-b48e-47f2196f762b phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c30663c1-b1a4-405c-85af-7c0459b799a6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b3ea8d7-a439-4953-ad93-dcf3a54caa77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2bd21907-1998-43cf-8481-a8800b9ffea8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:03d56575-d09f-4fd3-a3d2-3023ec2e670d phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7dcc13af-f26d-4411-a1a3-975a28a7a462 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:11a750d2-21a1-4d96-b51c-9319f43093a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:059e6f04-86b0-4efa-8e1f-7baf709db07a phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bae0f215-ec61-4282-abb3-ee52f5a52a32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d00cf1df-12a0-47ad-86c7-1c09ee4310ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3d96a5ba-a58b-4dfb-a41c-7856db857fc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b699a701-4512-4584-943b-93e26e9135af phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d0ef203-e11e-4298-8e91-aa1be7f9a7f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fafbbbf-4821-49ba-aee7-19ca25dbf208 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:db994ba6-179e-47fd-99d6-bea50bd853ca phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:60d02185-561a-477b-94dc-8d216f3757f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ad9792f-175a-4dab-a83d-5850f0bc3954 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:885c4e33-15a2-408e-a639-4f5da6bc9bf8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a20d7f5-f4d5-4b0b-b1ef-0036c3cb007f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c5b8f476-d401-4706-a517-49b45dc6998f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4059a126-feb5-4c23-8ea3-e564a7593353 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61c02ed7-5ad8-4efe-a525-0fdd113c7c45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c29e9444-509a-4a5f-9a00-cc4e6fcc31e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7f33a86-4a83-4f17-a6bc-308abd7165a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e528baa3-0925-4c98-ae61-faedb4141371 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d34c3453-01b4-4d40-8100-978b843ea942 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9788a3c2-cd0c-49d9-bef1-86b388d691c7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0166e94f-ebc5-4aff-9a0e-ddd9bf76b52f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5d52cfc1-fb9e-4e96-9692-19e9a0db7eaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e828e71b-8fdf-46d6-9193-9b371a59c314 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6856e1b9-290a-4f4c-b6d5-d9154436dff6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b0fbbb70-4c50-4bea-b0a0-d7e5e24c55b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15851b12-484f-4057-bf8b-d15b6cee1e6c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63167728-e294-4db3-b222-834aa880a61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2df5f8d4-fd63-4400-9c85-23c766e2fe5c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70ef8194-1ba1-4377-bc18-a8c2d32b4232 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2aabac4d-4f82-4ca6-8c66-0ed830d22bea phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:905fad87-525f-47b8-8abe-55f402cf15fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:744fca1e-2d2e-4f2f-9952-1b29eaff7841 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:006a0f61-58c8-48e5-a3a4-6b487bd84cc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:79110eaf-53ed-40fc-b1e3-2ad854fbfaa2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8494fcc-d320-420e-9646-bd8f870b5e7c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc500b8d-e3ec-45f5-a2d5-ee875f97ceab phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ca048835-e6a0-4773-8c95-ea349557a5b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c0a3491b-cce9-47bf-83eb-a2836908a74c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:20e80a2b-3ebd-452d-929e-516da0b94420 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:b2901ba8-8e37-4290-b54b-13a2a1bca016 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:700bb66d-535b-49fc-afd8-cb0f145aa3d9 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:8efbe8e5-6872-4db4-8fbc-9d6ab6d16fe0 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f4a8edb8-644d-45aa-a43b-4491694c69a9 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:556129c6-15ef-4a05-9e78-5f7172950577 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:aa640490-5ab4-400f-b743-224cfe88eb2a phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d5a71338-ff95-4b99-8c32-ec2e4b23703b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:02d074e4-9510-4a7c-8c88-e4682b65ae44 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b8955fc9-91e0-492b-b5e4-4c5c6d4c3523 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:7e311c20-5f81-47b1-82f5-05020b7b2e63 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b3cf08d4-c72b-4429-8c2d-d8e0d7041c78 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9b784634-81ea-4034-9ea3-d8dd3b751b72 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:31d7cdce-f501-4450-887b-d340173d8609 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:42d13561-aa27-45d3-9403-f3b76a8c4278 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:887cbabd-eb31-4321-a73a-3c939b518f52 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:b29ff55a-2b50-40e5-bbf8-fa53ecb8ab2e phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:93312717-74cd-4067-851e-027559179b4c phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:9157dff0-a57f-4873-b039-f9fabcd992ea phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:fb4e05fe-199b-4852-aec9-687cb73729e0 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:35d72f3a-178d-4fd1-9aaa-9f2697a9cb8b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:96c312b4-60df-4fb7-8965-8797671653e5 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:99522218-20fb-4454-bf69-fe34455661a6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:12fdb5f9-dbae-45ca-bc06-81a443caa9fa phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:000703a7-6481-464d-a2e5-30247a74759a phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:0d151d18-ff42-414c-a189-6bd85f952f6a phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3af37310-14e4-4341-b484-f10b8c32e6e6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:dba5aa0b-5cf4-4c5c-a024-2e5d0f848545 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a93ee88a-b74d-4293-bd52-dc3925380050 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7a1bd572-c348-4457-a96f-568c3e8e4fcd phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1a8044be-0108-4e8a-a899-180b9b9bba6c phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:70ac168a-7045-40fc-ad47-9847f191888b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9a0e32db-61bf-4eda-a769-e38b469d9aaf phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a5cd80eb-1069-4c26-9c61-352fce6e5655 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:87dd6ef5-e1c6-46da-a36f-5bd2ad2eff9e phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:52db68fe-5950-4223-adbc-ebffe8000660 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3416323d-055d-425c-ab03-fe5b8470c0b8 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:e4c23551-0171-4713-b466-0b26cc03dc1d phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7c1fe616-b9c1-424b-8f70-6c12e8a042c2 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a425d615-3313-4506-8bf8-bc0f08201214 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:8f979f97-0440-41e2-b8e0-8bda76ac9315 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9a6eb311-e804-4cd4-8837-21087f3e8792 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:2569f4b0-70d8-4d19-9123-82f7ca6dbabd phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:d6475d9d-e773-4ef2-bde6-d4ce575eb354 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9278489a-1841-4d34-88a9-318526079a87 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:bb3677c4-19a2-4a17-a783-b653aa8ad53b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:097e3900-72c5-4770-9227-72c9ed7a783b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:37161035 uuid:07781add-aea5-41d7-8d6e-2d78ea7fefc8 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:d68b60f6-2649-4ca8-8001-b3ae18939527 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:635faf49-c22c-4e2b-9502-411e8843cc27 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:26d3c7a4-ce06-4485-aeb8-aae4e1185ebd phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:561622c5-cf87-424f-beee-682c8ad8c6fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:91276490-81e2-4c75-98f7-2fe05279ff12 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:207a3d42-7101-4674-b95d-fc1d849d8e5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:09c02684-9d2a-4991-8cd1-e4deba1192c9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7baa7565-7d73-4a0a-8b8a-0002776b1807 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ca8edb17-dcb5-4b61-867c-b318291ac4b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fa3d75cf-42a4-4f14-8664-779f0366fc3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:748fbff4-f3d1-45ae-aa9d-bb75d33a1fd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f4b66cf8-7482-4d51-9316-4b91a0f98cb5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:54686516-ff4e-4117-9057-01907e4bbcb0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:457c1fc4-5f62-40fe-b4a3-c8181ab2ca0f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:094de18e-49fe-4194-935d-028a23891c01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:753cc213-d2fe-4279-9abf-af3509d5cf5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f8cab77-a617-49c1-8bd2-7c95b8ea0e40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb73f314-7e49-4dd2-8133-fc73a887a87d phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:441d4a86-cd26-4017-8ec2-6b786300a143 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdda3ab9-2bb7-4b16-b0c6-f63040230489 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34ba5697-a49e-404f-bc9f-e382a2963407 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:82ab97fa-ae0f-4906-b029-ec4cfc0f92fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2d61baa-cb2a-43a6-aec2-782409301205 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abd67a84-6010-45c7-b14f-e115bdd67ddf phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2c97d17d-fc89-44b8-a6e4-980750b467dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c22e2195-b771-4cff-9a48-4be948cee198 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:24ffb285-81f7-4e48-90c1-d0dd4679d5a9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43742a28-2de4-4df1-8ef7-b7534062a8be phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf925889-e992-4499-8413-61f8f8edb5b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1371ab1a-888b-40fc-b2fa-a2f901d0ad78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ca7dfce-1d99-413b-8bc1-7513e63a2b47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b92711b6-5a8a-4190-a316-bae14f31903a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1d922ac-b184-4101-a1a2-2832bb4274e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88fd3a59-50c0-43a0-8615-a5ebb6e8f320 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6725bdf7-503b-49e6-a92f-490e18d52374 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f52dad50-1ca5-4e2c-8dbc-af9fe70555ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7dbd799-4928-4432-95cc-c849e7377ced phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6c59387-aeb6-4c93-9375-d270a158e0c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:76786ca3-7997-476b-8552-624aec8f320a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d242f700-be8b-4ace-bc38-9175ec64dbf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a8a36cc5-ccc3-48b7-b406-ef24ef332fd2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb5779de-24f2-448f-984e-f1e537e0a2fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3343e79f-b161-4da9-bf7d-d0903ed6cc47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3999dd34-a2fb-417b-b52a-1b28eafc29ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de2d14da-8a0c-407b-9ee0-fffa586616e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e969f9bc-5d6c-4ac9-92b3-36146e6109be phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a0aa7a6-481b-4aea-9f96-361c4a136aab phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4cb561db-f798-4726-830b-19237b1aee25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e75f9f1b-ded2-4ff9-aebd-31a4d1c4343a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a86e7c79-7989-4b70-91bb-539b621b645f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa6e228f-f038-4aa8-a567-d0f0ee482105 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0fe080e-a2e4-4587-b895-1215ec44b8ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37b1ba0e-e914-4d3e-9106-e0ae2f0b74f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd168592-4e37-480a-932f-5ec84330e0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:98c268e3-41eb-4e0d-b279-eee5a4cfddee phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2ad8c6a1-711e-4b45-9e44-6cb66bbf8176 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f96e4bd4-233a-43b9-9447-c61c2432ef37 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c9afa1f-c153-49e8-ac02-dfe295633fde phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0f36913-fce1-4fa1-9cd4-983c7c9ac87f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c9f990e-98ff-4d0f-983c-1cc34a68106e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73744e19-fef8-4e5b-a6dd-3b30804cdfd4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93478440-5f73-49d6-82b8-14f15e367f36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf1e3a1d-25eb-47d9-bacb-6ac67b4f7949 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2085bec4-4616-4ed3-b003-1b8dc35b76cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:07d8343c-e097-4ea4-9a84-b6239821d0d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8ab2b18-895d-4df2-b452-bc2699711722 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7196c7ec-b706-4808-a75e-0ff6448830fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5875550b-9fb0-46f8-a90b-22bad6fad35a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e78ca45d-58a0-4488-afd1-5ceca9d0929e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97c25699-0b52-40f0-87ee-1c4e752e7ee2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1f9e1ccd-d28a-4952-a315-26e867d0d964 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abf5f978-870e-4e57-9a7f-008b932d9b27 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8988045-bfce-442d-be95-23a64b467925 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P3Y2M infores:phenopacket-store PMID:36074901 uuid:f632c9a4-05cd-4a9b-b87c-981f1c0ee5d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:52aa3d5f-69ee-4c11-b9c1-0533a899578e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cf87636f-28c5-44c7-a599-163460319fe2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:df00de25-a1c6-41b0-a3a0-3f5b0ae5da1a phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1ae2fc24-1569-40cd-8df6-78ee11f4caca phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2ae6f59b-d0da-48a0-9cec-762b5cc1907b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d36408fe-0a2a-4179-a163-5e01283745cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a4ae3250-aca4-47dd-a846-c89111e273ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c9349e4e-249b-4a00-8ca2-ded90e82012f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9e1c0088-0243-4fb7-bd34-84fe14c6ddd0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d3c30fb2-56b3-433d-a25b-616941da1e83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6610036-a0dc-438c-b7cd-aa206a8cae42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:111dfccf-f4dd-482b-89e0-26b322f82058 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ebf5b9ce-f80c-457b-966b-69b17e0c90c0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d98b88e-d50b-44aa-b99f-d804a72d1e2e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f4836b49-8cf7-4d3d-a32b-7ec13affa80f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4051d6aa-71bd-457d-8f01-421889b8478b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b12b0b42-e1e6-45f2-b642-96235c3c210d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97f67e6e-e452-4e8c-bf1b-02f18d8f7059 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87871d49-c5d8-4d74-ae8e-d5aa1b79454f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9c63606-3a85-4e4e-b3fc-5cff7a56dfa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e9eca1a8-db6b-4192-9394-285a2e7ec980 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4fc98cb6-4794-4dbc-9ee6-120236a9d90e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cce5615b-8c83-4358-b3ae-253c667dcf68 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:94fcd2bb-e132-46b3-b88b-c711067b49dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de76fe0d-d2a3-402a-9722-ac1414b52c9c phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd98cdbb-212c-46ad-8fdf-90442fd59661 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c69c5d60-0071-4c18-9a47-db8b91ec684f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7158318d-578c-4c55-867d-9d7ebac66a5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8dd589db-9481-41d2-abf4-f1352dd293bb phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91a445bf-76c9-4865-8558-69759f1bb5f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3ebcaf3-6ab5-4e9c-b06f-770b41ee6b74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7957b931-cc33-4b09-9193-c872173b7dcb phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:718e69d8-0ee7-4f42-aa5e-7c629df3e09d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b32264b-1df0-4cea-b0c9-4895fc73ef82 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:599fbfcc-97eb-4ae2-9c20-3ec9f50f8137 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c082b25-c43f-468b-a466-835ea6330e42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a65d80d1-4094-4b6b-a5ff-a340b720f6a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa64330e-df90-4e3a-abc6-8866c4f5bfb6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7f46c662-83c8-4d02-ad2f-92bf668d7d46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a8abcccc-17c3-4c0e-9c79-4d3a9cec94d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48125499-81e5-4b8b-802e-459d24c8a9f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bab12327-82ac-4047-b4cb-4435a9b6e4d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0c66364e-aa78-4975-957d-4fc58810e18e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5587294d-22fa-4c55-a37e-b9b131aa008d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:28242d3a-39ec-4be1-b0c3-a49e7da89f56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bbac01ca-32b2-4266-a364-a6ecd2b84ea0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:09be1d34-e917-40cf-b18f-ebde74851c7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9bacfa22-dabd-4323-8bcb-8a719c594a51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ef78315-18bc-484d-8311-40b2975c2ea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2636571d-b693-42ae-b920-20506b987b16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2e9f3b5d-6a5c-48f3-a61c-d574f2ee9dd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ad3becf-91c5-4e34-9cec-6d8b1dca5b34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6ee300fd-2579-4793-91aa-b0ea88e452e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88864928-936b-4063-8e8e-c360fbfe5547 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92d9da0e-5caf-4d7a-a3ea-f5c38ae36b42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd7895a8-d7db-4c72-9063-1b790c5cadab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d4acee1a-72c1-4852-817b-8ecfe7e72e83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c77a482-b1b4-4c4a-8669-16e6ee84a38d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b9175b5-c76c-4f00-a958-2004ad7224ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b8b5d3d-8395-479d-ba41-ad26685fca0c phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a7306fa7-3c38-4eb1-b755-b1d0cc6bf519 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af19dfb4-c13c-42be-a231-b71b9843fb1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff17acf7-d06c-4d96-b16b-ee152a295809 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb117be7-8504-4295-b249-a75bdb2387a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d752eb8d-2d81-46d4-a131-01f1ac40ac78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4c7035d-7619-4925-8c27-3be87de9a2f6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac1240eb-a50b-484f-b465-eac6942693c2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4c39b566-7579-4061-a7d4-d29f998d3215 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e279197a-5eab-4f92-b3f3-e8e849b4b2be phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:60869d42-6d37-4e19-8be8-e0d039f979a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:174ab24f-a57a-4f55-9572-293e7a0705ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97a4d968-f936-4e40-a083-76b348bd0f8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f1af5991-01c5-4977-9f35-6c821cc4f0cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:ca486694-b798-40b6-95c6-5511d7bc6e67 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:11e5cbec-ce6b-4220-b56b-4cc9da0a2a9c phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:37161035 uuid:b409a94c-15d6-477f-a88f-da4df3ef1300 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37161035 uuid:0c0bd1cf-2879-47b6-b2a1-4f433fcb392e phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:367d34aa-dd60-4ad1-9d94-cd8fde217dfd phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:c8660f0b-0983-4fc4-9e66-ddaef6d9716d phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:8f7cb2b2-b338-498a-9b1e-26b3c3aa503b phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:b181b39f-657a-4ab9-9304-c1a6ea6b46c7 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:418d60c9-46c1-4d90-b505-3e42c368f1b7 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:4baf1ca6-1728-446a-b0e0-8845676a4b36 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:945cb40f-3267-48f1-8211-90ba07f88f86 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:437a4b7d-0bf7-41eb-8084-2b4d8663b8c4 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:b8b24c64-d568-4df8-9a0a-c832e8d4bd7b phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:8e1e55c1-265c-409f-b51d-6e065294a178 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:37c8ce59-ec26-4b6a-839c-79b659ead2df phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:b38fc4db-fcf4-46b5-8f64-f1be0580cc14 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c1336770-1d0d-4888-8b18-cbf38281d548 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:64172b25-1de6-49b8-9ef9-8ff2f37fd4e5 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:aca419e3-604e-4cfb-9fff-779a71f69a99 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:4fe43ec9-a20a-42bb-9ce7-71f210e3dc7f phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:37161035 uuid:8d0941f9-c836-4121-ab33-6c90d3b18d56 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:1b4c88f2-0344-450e-b363-0f0d0ac5aedf phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:344f8b8f-671b-4e0e-9933-e42813518e3f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:c6ba4bae-5796-446c-8fd0-5d30cdcee41d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:834f00d0-d96c-4826-850d-8236a637b3f2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a40a3ed7-77a9-4fdf-8126-0271b9341875 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:07f75241-9f61-4f90-b834-39d90471b6c4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:918179a1-899e-4966-82ef-d08db6343906 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:06b77a65-4915-4087-bfb4-9339dca55098 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ffbec1d6-4b2e-4842-a961-a9a1aaaf7f24 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:27366319-1a46-4fd1-9c38-801fcbb1be0b phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0139a2f8-449a-41cc-a459-168e5ef2748d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0d02ab64-0a07-4d8f-bcee-d25f2d9fd830 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:79963c6e-c53c-4f52-9f79-20fa61da9bf0 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b836122e-f82d-4e5e-9980-38e298af7ca3 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:db663c1a-c9d8-4f23-bc8c-5917337bc4b2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:02c9691e-4734-4859-b5e8-88e2f000e58c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e18fd734-f17d-4405-8896-919e06c689a2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e7854c23-e79e-4cc7-b14e-db1314e43061 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ae77a6c7-a7ba-4d58-a5ba-056e03243ef7 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f92dd47b-ac01-4aef-ad0c-77a2f9c63644 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:98312366-6b8d-43e7-87ff-7f31844831a7 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:8bb1897c-a2b1-4f57-aa57-c1a78e90a80d phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d9345614-9a06-4f3b-84df-378f17a469d5 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0f1aeb0f-9543-4be0-aaaf-629326f744ef phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:803288cf-8aa3-4c82-b802-15f7ff8c4f7a phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:79fd8dd7-1234-4d4c-8535-585b78f41ce1 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3e832afd-550b-485e-99d2-5b29188125e5 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4af25ab4-f23b-47d8-8827-f00e930643b7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9f5e7d3c-204b-4b43-9ced-3879441028a8 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3237b06c-b915-4208-ba50-7ab3876bd361 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:02948a49-247a-4745-b546-d15054afae77 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d92bd383-e772-4000-a475-ba53c7bd1c7c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4405dae3-7c6b-4a98-a7da-425935e5a0ac phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a7ccad59-651e-4dd0-8b1e-a7ae78706628 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:370a4c69-73d5-4122-b1f6-c89063984c99 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:cf02fe03-bfd3-4be9-b2b2-554dfbf0a1ce phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:96d1d077-1fa4-45a0-9534-09008e9821d1 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:973788f3-35c2-443b-a630-bdc88f19ebc6 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:eb11b018-f125-435d-8bd3-e9f29a8a7221 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d8aab95f-9704-4aee-a888-4934f61b20e9 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:059d93da-e0b1-4762-aee1-92958cd7f4d8 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:0f73f4d1-796d-4b7e-8871-31d5de42d3c7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:3eaec744-6d36-432d-9d18-0a934da0aa8e phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:29e2c9d9-cb73-4811-a9a2-60ff5d35dbc0 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:9b87eb48-adde-4f6b-9d35-657ebcf1306c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:b8817585-fbdd-49ac-b326-0cf8008dc187 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:648c4ea6-4628-4f30-9b25-657afefc719d phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:e9ce462e-0d07-48af-a634-cb8c7c328b19 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:80839670-b76d-4d94-b891-84764b4c0b1b phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:f531473e-8afd-47a0-be41-7bb7266cb167 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ffc89903-e205-4bfd-8404-50df1bd864d7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:661bbfde-8a07-43e4-bdb5-cd76426ae215 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c0cbd938-7e10-409f-b3e1-9b47ccf1ebdb phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:2edb8780-dc02-48ff-b652-13162808da9c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:bf47e4ae-0a41-468f-835f-70075ecf65d6 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:0b798f07-aed5-4fbc-b7f4-609f4565b703 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:d9d6cad4-fd3c-439e-b9a1-f7429f1bf01f phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0a9bd843-f3cf-4fac-a66f-7bb5cc5d55c9 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ed241152-c170-4d95-98c6-b0d4bc4bff03 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3f73e948-323f-458d-b9bc-5e24aaa9c530 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d24b733d-75e9-4e51-9272-39e62dc84307 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f0b72bcc-5eab-451a-be26-c5f03de9f1fc phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:400e29cf-84a1-4a2c-9381-67fcc164762c phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:cb03ae46-9b22-4a9b-a25a-60bc332f9a66 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:055c466e-a59a-4e05-86c5-0210d02a0c67 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4ff98898-81ae-4f31-b1a5-008916306187 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0090a6dc-7392-4a89-bcd6-357f212d7463 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:de727b2c-78bc-4eeb-a690-aab5318b78e8 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3f058f06-ea90-4ba5-8cd4-0197974dca49 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:35df6154-840d-4dab-b502-d02f81e92980 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:07f0d467-fb81-4aaf-b697-4984c80b4b85 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1ca0396f-a01f-44a9-ae63-a99f969695d1 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3e12258e-be6a-48f1-af4b-63501304bef1 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:083627c8-89c2-40e2-a0e9-2fc647dfe853 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:81d26aa2-d063-40cb-b3fd-4ddc1e2d03fb phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:80c42814-c6ab-4939-a261-e6d1262887bb phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9a0b414b-ae06-43f6-9dae-e66e9ae48647 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:14e67d7f-8f1f-4817-877f-01087080781e phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:dbeb9518-ef3f-4b5f-bc44-5254517a04f2 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bd1a251d-63ee-4b07-83bf-939ce78a2b8f phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d942169d-2009-428c-9a45-4d89b5355b89 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d9952a4e-6c4d-4db8-bd1d-b4c3d56766bc phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:34b52f6b-4f5a-4f46-b72f-f2089293d3ab phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:503231b3-c8b6-4c1b-8ac2-47ee801c014c phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:73a0bf4d-936b-4338-932a-5b34a03bd1ba phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:9a9ebdfa-c704-476b-a50b-ae78a0b41807 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:fc9ad629-72a3-485e-8631-ee6aee2790f5 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:3402edfd-aacf-4c40-914b-8eeb3037f2d0 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:61f20940-0757-4536-a95c-22e3dbf163ca phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:fb9f3446-c2de-4dd5-8948-e35a181e23df phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ac4c1e76-56ed-45e7-a743-1ae1d50ed937 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:aa476e4d-fb06-440c-b4d4-dad833f2a2b9 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d9029ac7-aa3f-4d51-a804-9548ab51de21 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1c8f8f5e-2c5f-4dbc-935f-185d179d8179 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6251013e-1022-4cd0-8036-b3894fbff5b0 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:7e579724-576e-4b12-b742-12b1fe61e02c phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:346245e8-0847-4f75-b8f6-d2ba29a15116 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ada6e05d-32eb-4f26-a9ac-0c4e39c3be78 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b8d710af-1325-4568-a3cb-1f581629ad00 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bfe23045-774c-49b0-8aff-bc570f893bfe phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c588a433-3372-43fe-b751-7a6d4dc13e0d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c35c82e9-9818-4e6c-b6a7-1aad1a82fed6 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:e4e8b176-2b4f-4a83-8420-04fed46c6750 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ea0a96f1-2172-4f78-96b4-3df55efebc53 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:87fba541-271a-4c73-a9da-b9809f81525b phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:a6c44e9f-6091-48ba-b8cb-840ceef5f276 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ca3cf562-4900-40bb-9312-c18b9892f880 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c2929f50-26a6-4472-ad8a-37152c6af1fe phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:73d291c9-da86-44cb-bfb4-8e5a7efeda8f phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:be4f4707-b1db-4f43-b13a-39f4e7338de9 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:594c7133-f31b-459a-a939-ace0af46ec8a phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:006f016d-54c7-4973-9fe0-0c81f6441931 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:07cc4331-df79-42cf-b64e-dcca43d69d1d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:1cdc07a6-4e12-4664-aaf2-e2a8f085bfb2 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ae2c963f-5495-41ff-8a65-eba29c86b9ea phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:7dc84f77-c996-4265-af4a-736ed48908ae phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:820e62e4-7093-4ec5-a6d8-851432a9131d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:1dd18c7f-ff7b-49b1-93a6-432351e274c3 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:85ad4407-cdab-46d1-af62-d5e129c0c91b phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:36caf328-a95c-4dd0-b2cb-8bb7c66e2a70 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a6a55ec6-d945-441d-82e1-5adf0b016572 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5a994486-1cc3-4c46-a689-e938bc3325df phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4624e68d-2648-4da7-81d2-80fdf8228d90 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b4b2cb32-f907-4e34-939c-90adc9a4b164 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c01ff4af-c13e-421a-8715-8c9205b727eb phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f3cc6c88-8009-4661-b397-1a1b1996e192 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9a094fb6-a26f-4bcd-aaec-21f6385da391 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:8034a450-6fbf-4661-9364-181d7ce560b0 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6e6339b9-3566-4f76-8845-893d85a0ca46 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b690d512-f857-449b-a8f6-c3f89cbbee46 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a6d55538-27b7-428f-8d7e-912da7e10274 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a3088b47-8180-41d5-86d2-8e155071010f phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c4ffc985-3054-4b1d-b95c-1f0253beba6a phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:7243027c-1602-44a9-89ae-ec2004e19ca7 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6ee58dec-7eef-4697-9427-503ca415e283 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:cfa31e35-9ea3-4ec3-b528-1c2f988cf44f phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:180fdc9e-f65f-4839-89ad-1425a4251e50 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:93042ca2-feec-4e09-9421-a05b2ecbd11f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:e71d4363-dc2e-403d-a7c7-e9126df0c269 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:5c074512-ecfe-42c7-acb6-b9b41ded6b50 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:cde12bb7-74e2-49db-b7a2-9a76db5edf91 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:d06e6bde-83d3-4cdb-afa6-ee1c70b71fd0 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:fcda556d-867c-46b4-810d-5ea51fdb9170 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:01e5f5bf-58ca-4ae9-9626-85545a6d3aff phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:6148a49a-f146-48c5-8b0a-c11aa19a4f6c phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:39d288e3-c626-4670-ba2b-b93f756f0784 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:af90ec9d-96fb-4610-9ea7-80d57dec805f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:8a4e3a33-0e06-4ebb-84d1-5bea3a2b3c93 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:1df7a54d-462a-4943-8eaa-67886b84f4bc phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:1fa46681-72c1-409f-8025-b2aace7da811 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:32a1463e-b6f9-4e2e-87e6-b86a78326fcf phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:8a54899c-79da-4d37-97e1-3ac65c0d085f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:77ef44c0-6554-4945-b399-815e7faf3a3c phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:39ab057a-5588-4702-abcf-89ee2f5ac3dc phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:62d7b840-72b5-483f-bba3-a3be62a54481 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0011648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:46f5a689-c052-406e-9111-e8b5b6f43980 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:853c4970-1bc4-4b2b-af9d-ec871f63a29f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:1a1b3d0c-e085-4705-a3b5-b8fb36a08f96 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:4c67c093-d2c4-4efd-a158-feafe32f50dc phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:cea1b498-51e3-46a4-98bd-56d632e6aa77 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:de0a1b41-565c-43d2-b740-424524fcbb09 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:351fd815-e8a2-4eb9-84e5-7876b60a6784 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:14861faa-5f01-42d7-9c5b-23b568c43e3c phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e31a32e1-7efb-4b91-bd8b-49c84a947b89 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5d3d2d82-d10f-4ae7-bb9a-a0a5db24f766 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2c57bb9e-2b83-4cbc-9b2f-7f16855400ee phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b8933eb6-b733-491e-bd10-97e74228ea88 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bc775cfe-5ba6-47a1-9b93-1691acb550aa phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2fafb5f7-197d-4e93-afd7-6b629ab6b3a8 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:79fb0d97-4af1-434e-bc39-d9754d64af11 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e2229fc1-8494-4f9b-a673-18466bfd1e3c phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5874dd83-2e1e-4c3b-a7cf-c2e74f5cafba phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:473a17fa-0055-46d4-9af6-1b6ae73af052 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1efb03c7-8b6a-44ff-ab7f-78bd0022f939 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:767dff5e-c76f-4dc2-945c-8c41bf81e215 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6cd54441-d37f-4c89-a3c2-8ed1cd78b93f phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:1ec4b5a4-efa6-4598-8733-bee091ecb0d1 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:3cd224e2-4999-4e65-b227-0f5b1f2ab5c5 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c22a913d-0c92-44c9-80c5-a91c3394827b phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0bda5d57-910f-4ae6-be54-07663dadccd0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f1d45136-321f-460c-b6a8-c7518e599b63 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bfd5de52-b0e0-45e6-b3b1-85d7aee8ebd7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6f93777a-fcac-4ccd-b92c-e88f570d5a08 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e91e0b0a-ed7a-4e84-9053-c3e9a06ce46a phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6328b08b-d223-4ffc-afe1-0867d06a4ff1 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:431165f9-97a1-4408-9765-23f7156416f8 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:595c1af2-b2d9-4fee-8ca1-60be270ea035 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:a4a12da4-3506-452d-adc7-5cf2c0067062 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c95f95ef-ca93-4bb7-bf58-0e1d0bf35db0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6154dccc-0721-40c8-876e-1b8c391e3923 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:5dd9232b-9692-4adc-8bdf-a77bddfd32b0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d2cca7e2-6bcf-4ae6-87d4-e13dc17f8204 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:6a4a1520-e126-474f-bd2a-e6cb3eb75e14 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:001507bb-c15c-47b6-8a23-3ead3216adf8 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:690e93f1-d27e-443b-bd0a-914b3a67538a phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:6c158041-73ef-4575-85f2-b33a57376bb5 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:743dc56d-7f88-422f-af8e-b10394a2e53b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:ee314152-63e4-4161-a6c1-01c6ebe61750 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:e981b089-d4af-4eaf-ad90-5a59a2edef26 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:df685574-5a01-43fd-bae6-fe6733ede4a1 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:3b855563-3b1f-4fac-82be-3e0e98f5ded9 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:279d7abc-c00f-474a-b082-20e144fd71c8 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:03c1a2c4-c312-46cf-bb7f-224efdacb92d phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:a632ef0b-8506-443a-afa4-778546423721 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:dd511aff-9c7d-452f-a47f-3d03fb0b5600 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:ad6da5f3-2dc4-4e32-8194-41b23a1d7f7f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:b622c3ee-539c-4b75-abaa-edf093f03374 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:78257926-744b-4816-adc7-2768214004ab phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:9850e81f-752c-4762-936f-2371602e84d4 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:7e9618c4-5ca6-47e7-b496-f629aa5a677b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:bfb50947-d24e-45ec-a274-37563ba9750e phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:a6c08113-17b3-4052-bd2f-b167f92417a5 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:5f905b6e-daed-4349-bc74-3770988b4977 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:6f00b259-e90e-4e77-a6ec-103694967722 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0011648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:f7e55079-44fd-49cd-876e-594c02ad6923 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:44a9e24b-8c35-4e6f-9117-5838f9dbf81b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:7fa6bbf0-1930-4b27-91a2-6c9475b25911 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:2ddbf63f-2460-4c36-8bee-ae8a6b246f96 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3a566d0d-0806-4dbe-a3b8-a55a9ea46932 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f70fc2a8-f73c-432d-aecc-a76d723a8dd9 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:8b7c5aca-4679-4fd7-8dda-cd1a399a4063 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:02fac92f-e6ee-4fe1-a80e-ec33487e5a3c phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:985cff72-61a3-46cc-b671-04938c6359cd phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:37748406-d646-4817-80fd-48de30b78fb9 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:eb9d3863-34a2-4f2c-bc88-afe74006f50a phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5491523c-6555-424e-8fed-f8be0da28ee6 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:10b38e6d-49ea-45f2-bd30-91c689aea5c7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2e47f654-6a6c-440b-97f5-70fbd90aadd3 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0f3a35e0-cce1-4da5-b11e-57aa8d6281b3 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ac8431ed-4b72-41f2-9502-d47f3ef46dc5 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:10f5d617-d05b-420c-b0ef-52d78cec110d phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c316be2e-993e-4b5c-96ed-3ed9e211ebd7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:83dbbdff-74fc-40be-bfbf-efe784e205e0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:32a5c10e-860b-4fa1-9285-59cdbdda99a2 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:db4a3a10-b981-4c62-ba92-982cded19475 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3eb4b283-9f49-4c70-98bc-99d86e7bd795 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:0065607f-435f-4767-985d-1244baf61591 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:8760f7b0-e05a-4f87-b661-984f74c31c5d phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:b9e4c098-73ff-461d-ba22-f8ac82639ec6 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:8739082e-d9d9-4760-87a1-c2da84a4dcca phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:2070b767-b927-4a07-a6b6-53f911951583 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:e7c2cf8f-a88f-4eac-b990-6dfee40f3a39 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:ca356166-283a-4688-8b8f-07bde48cffb9 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:cb355921-a808-4078-9ba2-ed33aed1e6f4 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:834d95d7-1b6d-49a7-95d4-bd7b62c8c3ca phenopacket.store:ATRX.PMID_28371217_brother biolink:has_disease OMIM:301040 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:2a19f1c7-1cdc-46e5-98d9-54683fc4aed3 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_gene HGNC:886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:beb49a5d-33a3-4878-9b09-1cf3d5e48bc2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3ac23027-9cb5-46d3-8e86-c75efef51dc2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:55558d03-9814-4103-8674-ec4a92ac180d phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3d69bebf-519b-4685-91b6-a148219f2c02 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:f7d0737d-9be6-443a-8532-0333df4d25ec phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:0d4344d4-efbe-4a4a-96ad-8fe25ded159d phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:4e844b68-6c5d-4618-b96e-df8106dc2c92 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:6a2e5809-aa7f-40f3-a13c-b20d74334bae phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:9d189d7b-85b8-4636-8a6b-4fdfcf633686 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:94550fbd-8d9e-4988-9378-fb6cded56e06 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:d96f7a75-066e-4ca4-9826-b5d2314758df phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:1543c97f-8ee4-4e68-81dc-7dbe228ee2d2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:90ffd2a3-6300-47e5-b348-ab9aea48758f phenopacket.store:ATRX.PMID_28371217_proband biolink:has_disease OMIM:301040 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:895795fa-01f0-46da-8eb7-b3aec041a980 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_gene HGNC:886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:654add16-90fe-4dcf-bf09-80a660b6bf11 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e91352bb-871c-4fb0-ba97-c9a6718d2775 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:358d4f6b-b320-4d28-87f6-b60ba1ab1f23 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:cffca489-c1af-4919-af77-912b5a364e88 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:23134820-55f8-4141-bd7e-20f1b2ec9239 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9e3bb5d6-b97a-4e9c-b9df-8b9d2bd82f41 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:b375f528-b832-43ec-8ee1-2c529ecb31b3 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f0d7207f-8fec-4640-807c-9b351f5ef02e phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f271a841-895f-456c-8f76-adf327677fe4 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:29e36108-efa5-49a2-94b8-7aa25f3c17b2 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:60a82e56-36e0-4478-9d70-756cd0d67c24 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e048652a-8f63-4bf4-8bd0-37a17f9f4ea9 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:616a57fe-7df8-4f5a-8a24-e84bfbe87c96 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:6c95b061-9fa0-4bca-956a-0956b93cbf4f phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f9da1e0d-ed91-4f9a-831f-dbdbec3f7a41 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:49326dd7-8cf7-43e2-82bd-c698c8ce003a phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:630ced7b-fe72-4ec5-acee-be8eac160000 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fa929c48-8b28-407e-93a3-c376c931cfd5 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 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phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fcff0616-9c31-4f03-95f4-52f61f457d11 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:cec90805-7750-4919-ad87-82dc7f14e17d phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fe04686a-baef-4980-b18e-d601d77aee23 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7dafdaea-2202-46a4-b612-6af86db3a7bd phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:54b4c1b3-4a5c-4dca-ba88-da2ecba8f6d2 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7fa1cc2c-6c1b-43a5-88f7-16a2306c81af phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:b155d5f1-0a13-4d96-a6f3-54aeea098c01 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:17e3a6a4-856d-4a91-883c-533a75c88960 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9dff079e-373c-479e-b5cb-2c8c953c4b76 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:2470cf93-5091-405b-bfec-b5087ec171d0 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:eae2abe6-cd25-45fd-8127-1f819f39f863 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:4ac43959-9937-4dbd-aefa-2fb47300e606 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 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phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:fc9faa4e-8aa9-484c-b906-4635503bb587 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:7c3797cb-bd3d-43ac-8d58-bca362a89794 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:873d836d-a4f1-41e2-be57-f305b58803df phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:cfddcfe8-a87d-43dd-a5f8-4b47b213541c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:834c97ab-15b0-48c4-9bfd-e316cc3bac0c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0a92d173-2238-4467-adbb-6820db1860a4 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:f56b92a1-b206-4f87-9bb4-814fa7828c33 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:30c6b5e9-ba97-4934-9b06-a98abc1bbd1a phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:daca66c3-2ec3-4622-97db-f0e99c5ca430 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:8498b69e-9563-48a8-b69d-f98aefe57d0c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:de239df6-d228-4e76-88cf-d1c469a2f972 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:1499fe73-25ab-41f7-9dec-ba3b151f80f3 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:b3a8cdea-feee-46a2-b1bc-f9dc27ebaa0b phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:0a7edf52-7fc1-429d-9e6a-b34d8d67304b phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:426324b6-1663-4073-a436-59d2b6c16c01 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:a21a070e-c414-4715-b115-2bb1ca60c8fb phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9a6ed933-3855-4a1f-8cb5-6c4a1b6ab66a phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:ae203204-01ac-4706-b550-2fe5d3def79a phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e1cea9f1-fdaa-4750-8377-a9aafff996d0 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:1a790d63-31fb-45d9-9749-b19683faf537 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:0a919158-86ad-43d8-aee4-a4f40c58aba4 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:74c070e4-e7dd-4028-91e4-bfead35362b1 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:6dce661d-42aa-412b-9244-98571f68c2ce phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:143759c7-5716-46da-bec0-73cc039c993d phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:7ba3ce4e-bf7a-4bdd-b393-722a8a786619 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000256 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phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:c0e53c71-cae3-44c0-ab22-50e4483ffe89 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:c9e3054e-07c6-404b-adc7-67d222bf5eff phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:bc7a8bb9-a7d9-404e-984d-4615a2e18561 phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:007dffe6-4a59-4ba7-984a-5831024ac3ad phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:4e3fc026-dd26-4fa3-94ac-2a39d6cc611b phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:3d8341a8-37ad-4af3-9c96-d5e174366c2c phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:fc367cde-0e05-46eb-8001-26ad32933e19 phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:8576c2bf-552c-4373-889f-9a36ad8570cd phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_phenotype HP:0002028 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manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:14593f0b-42f9-4380-956b-73810a630eae phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1e79241d-50b5-4104-b99d-ce4b4790baba phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f730167d-24b2-418a-b041-83d1ca54a1c0 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ef078639-a645-4abe-a16b-d5606f58e76d phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a9e82ffe-0b45-4e10-8ef4-092bb801b1c7 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b8506a09-405a-44e6-bccc-762ed76811e9 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1661b3a8-18c8-4e2a-bd08-e40b6e5016a5 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:63c189ab-ea55-46fb-981d-7ea073d34f0a phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:fdc4d9b4-c964-4c2f-9b66-b24ac70fcc9b phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bd7885bd-3a80-453d-933f-825bb1c223de phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:4076c863-5eb1-40f4-8e43-d0c0562d29bc phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c00e85ac-433c-449d-88b4-8dcabbf008e4 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b4357c46-5bf8-4abd-b551-e677192cf288 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6cbcd839-8bfe-4a83-bd47-7b78b8da8c7b phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1355749c-d097-4cb8-8cf7-05b26982323a phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7cdccc42-6ff8-4dfb-9231-aed983f0c468 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:11aeb52e-61a9-4330-b085-c3059985b405 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:cd10b4bd-61fc-40c3-9f6e-691431e68de4 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:82d99ad4-bfb6-4251-a341-834d760a81da phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d3dab924-35a6-4519-b2c8-c4d3bb81ef7d phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:18a5cfcc-4d60-4e3a-a6e0-67aab3b66a1f phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:7d19adc9-95e2-486b-bb78-9aa9733019dc phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:fbfa3bbc-afc0-4c34-ac08-d774c69a8235 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b54d2997-c379-4efb-b8de-c63c272fe856 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:390dc1a0-49c3-481b-9c18-65a527e746a0 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:50cf8fac-a3c9-4198-99bf-ddab348ffb58 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:a30e3c99-e116-4a8a-ba2c-0cf24ef89a7c phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c5c45e26-7c08-440e-8329-8af99bcbb24e phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:73f2b3e9-bf90-4dfe-980e-d6938a069bce phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:9b72bdb6-8d9c-4ae2-87d7-3b34a4894ade phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:755fef0d-2090-40d5-803a-4d651f43b161 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7bb54d7d-739b-406c-b08b-88a3c865402f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:572512ff-1d83-47e5-a87e-c56ec36dae07 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d24e50b1-641b-421d-8700-4bf33b2e6696 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ed2f50a3-425f-418c-9260-7b060c128ad9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:40f53e6e-f580-4061-a220-054ad5c3ba1e phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:345a01da-09de-4bca-a45d-1e21763f44e7 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:878032aa-6000-469e-a0f1-b3db24b9d04c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:892e3cd6-6d70-47ac-a947-ddeeeb571a27 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:900ff0a5-b350-4e69-b010-a10358bb367f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:fd9709ad-ead4-433b-b3b9-3484cc9f0e2b phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9376327e-015f-4094-9f88-85c4d5984f67 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:69c77cd1-eda1-4d62-ba09-e34e9a062cd9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:babf972d-c84c-48d4-ab08-c522f0db0b0b phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:4317df03-c886-43d5-bfae-184c3b51052a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:456200e6-bd00-475e-adbb-2303f277262e phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:aa006f02-84fb-4934-850a-83bbbb13061a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3a927377-f714-4aa8-983a-6d14783ab076 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:516886de-b7e9-40b8-b3d8-adec2fc60d8f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d4d99834-7762-4204-ba92-f59449c2e1a8 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:07626d50-ef4a-4d75-b78e-818f4de25ea0 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:8f118ebd-62a6-4c36-8358-46f0badc4454 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9e4c01f5-1256-4578-9ae7-caf566b90e41 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:0de41d27-edf7-4911-97a6-b7d792bdbf50 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:1ab3b781-d7ae-4ee6-8452-faf505a85a8a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:858d765b-8b4e-43b5-baeb-7b3495182e6c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:59fd6bb0-5517-4560-91db-424dc7e50474 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:7a2c1c2e-23a2-49db-ae6b-5b0611b8c270 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c820feed-16fc-470f-a70b-76dc35c684c3 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:f6f89432-1d23-46a3-8a22-2f0ace5dd5e4 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_gene 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True infores:phenopacket-store PMID:23664117 uuid:15b73b0b-1cb2-4223-8569-b209cb7b55f0 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:46d384ee-edb8-46c8-b2ee-45fea8dd2a68 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b839e235-8d74-47af-b4a9-8095779de659 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:062e8ed4-cc27-4d6f-8e21-73a7eab47629 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store 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manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a0efbaea-78fc-442f-a69d-1db8ad5459a8 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4e554d2e-6214-400b-b4ab-c4adbe273534 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:80714d0e-eaeb-46e7-8549-22a36cfea406 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:da205c6d-7e0c-4817-90af-02981192dfa4 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d9f1df2a-12d0-43fe-b6b2-e55669250472 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:050367d6-e347-43bb-85a2-39fa02eee3e0 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:39b80b4a-7010-42db-921c-1e8c456289c6 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:8fd6d77c-6ead-4a53-b008-04d1b1e972e9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:b1b96fd5-23df-4578-a0a2-27529c331c65 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:f0d8894a-d474-4ea2-aad9-286cde899d81 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:23664117 uuid:1dd1816c-4e59-4ad3-9fc8-9fe881b23be8 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9cee4198-a93d-40d1-9c27-05036d50d099 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:225b9c51-3ffe-49ed-88dc-2fbb2fb94a93 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b657745d-42b3-45be-a5ba-a52b2923e3c9 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7a611dcc-540c-4364-a737-183364acca93 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:79bade3e-cd15-4bb3-bf8d-2626dbcb2d45 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c0148465-2a69-4eaf-b082-d30571c7004b phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bdda57c0-c63a-4e53-98b8-1df2a6f7d639 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:07e625ea-69e5-4255-8ca0-162a8ac5a625 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:533ae348-417e-4710-842b-5a8f03734851 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c917b3b8-fe61-4529-aacb-4deff4e954f0 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ee9cb450-0f81-46a4-b4b0-69dcc6ad44e9 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:24fd1ac5-01f7-4884-818f-3f946f40de76 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3a2be5ac-19a4-4a6b-9d3a-c44c95c8d133 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:08e37e10-de9b-48eb-8b0e-5632d9e0ca12 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:88fc577f-3195-4751-8e00-960cc91bd42e phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5c8268a3-7581-4d93-860f-36b537b21854 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:345b61ad-2934-4c5c-a77d-8eaae64c2655 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:aa27366b-96d8-487d-897d-8f40f7bf6bd0 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:431194f1-9ac1-4a29-8eb9-66c8c1b43254 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b2765329-c5a5-4e3d-a591-cdd617dd026c phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:42990c12-5c74-46dd-91cb-ecd283e925c3 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:debec440-1404-4e7c-8906-1019b024a877 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d7634c7d-5a0f-4cfb-aabf-25f6aca88a22 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:47b8b659-1c84-4f9d-b875-87ab96c9f82d phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:86afd56b-081f-44b3-bb00-0fce924e11ad phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:50bf6daa-2b0a-46e9-a954-3c3976060389 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:3d845f39-59c1-4556-a7e0-01f9061c021e phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:bf85bd5a-b487-483e-b638-c513559384f3 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:4a35c2d7-aaaa-4d90-9550-74d9a6360f9b phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:2417823a-f7e1-45e4-adf7-9e016de05e8c phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:23664117 uuid:229718e6-ce74-4ec7-b545-088d139871c1 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bcd2d8ed-e66f-40a1-9dac-8ab1fce85884 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:22cc4f34-bdf0-483d-bd78-7cd5c4969a68 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:85b524fe-e2b6-40ef-b598-f416d3455a68 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6d50eefd-1e98-497c-93aa-af7efeee1883 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f86caac9-49bb-435a-969a-591a53f348dd phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:dadc230a-6638-43db-9ee1-c4907fafa298 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:25c846b2-de32-4024-833d-0bc5a5709057 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:24cadc4c-2657-4527-a36e-2322de9b83a4 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3984d52c-7f7f-462a-884d-64661d160dc3 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f3c8a8a6-1d76-40f8-b10a-b453078dc509 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bbe69826-0cee-4f1e-ac01-fe9820eed8e3 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:74281672-2f41-4ee1-8261-fa97277e9b58 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:466776aa-199e-4bbb-bb06-e66c2be3f2b2 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:986adec9-6693-4413-9a2c-965b2129c8c1 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:e713fa9b-2a41-4633-bad4-70896598c0c2 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d38ccada-b7a1-4848-b800-2a52fe22f9ff phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:db91e12a-18ad-45d4-83cd-ad9dddd4b52a phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:9f56664e-cb6d-49c8-903c-80896076ca5b phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:af092cd4-24ca-463c-90cc-0e9aebe0f595 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:953261fc-e228-4cd3-a6fd-3a8757d5ba8c phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:edf08258-75a0-4351-b3e3-a7c8b4f2b8b9 phenopacket.store:B3GALT6.PMID_2